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Cardiovascular Genetics

 

325T   Genetic architecture of carotid artery intima-media thickness in Mexican Americans. P. E. Melton, J. E. Curran, M. Carless, M. P. Johnson, T. D. Dyer, J. W. MacCluer, E. K. Moses, H. H. H. Goring, J. Blangero, L. A. Almasy.

326T   New SLC10 mutations found in a Japanese patient with arterial tortuosity syndrome. T. Morisaki, Y. Honda, A. Yoshida, K. Fujii, Y. Kohno, H. Morisaki.

327T   Distinct phenotypic differences between TGFBR1 and TGFBR2 gene mutation carriers in Loeys-Dietz syndrome. H. Morisaki, A. Yoshida, H. Ogino, T. Morisaki, LDS Clinical Research Group in Japan.

328T   Coronary artery disease is associated with altered gene expression in human left ventricular myocardium. J. D. Muehlschlegel, D. Christodoulou, K. Y. Kiu, J. Gorham, G. Lee, S. K. Shernan, S. F. Aranki, C. E. Seidman, J. G. Seidman, S. C. Body.

329T   Identification of a new chromosomal locus for a mutation causing left ventricular non-compaction with ventricular tachycardia cardiopathology. E. Muhammad, A. Levitas, V. C. Sheffield, R. Parvari.

330T   Association of MTHFR C677T gene polymophism in children with congenital heart defects. H. P. Mundluru, S. Sunayana Begum, K. Srujana, K. Nageswar Rao, V. Sreedevi, G. Sandhya Devi, K. Vasudevan, K. Manohar, A. Jyothy.

331T   The contribution of biogeographical ancestry and polymorphisms in the CETP and LIPC genes to dyslipidemia in HIV positive men receiving highly active anti-retorviral therapy. M. Nicholaou, J. Martinson, L. Kingsley, Multicenter AIDS Cohort Study.

332T   IL-6 and TNF variants interact with air pollution in modulating inflammatory blood markers and MI risk. F. Nyberg, S. Panasevich, K. Leander, P. Ljungman, T. Bellander, U. de Faire, G. Pershagen.

333T   Cytokine (IFN-γ, IL-6, TNF-α, TGF-β1 and IL-10) genotyping in Turkish children with cardiomyopathy. S. Oguzkan Balci, N. Col Araz, O. Baspinar, T. Sever, A. Balat, S. Pehlivan.

334T   Downregulation of Casz1 by siRNA injection into mouse tail vein. B. Oh, S. M. Ji, Y.-B. Shin, S. Park, H. Lee, J.-E. Lim.

335T   Functional consequences of heterozygous ACTA2 mutations. C. L. Papke, J. Cao, S. Lim, M. Rees, J. Chandra, A. Trache, W. Zimmer, D. M. Milewicz.

336T   NMR-based fine mapping of lipoprotein subfractions strengthens association with genetic loci and provides information on their biological nature. A. K. Petersen, K. Stark, M. D. Musameh, C. P. Nelson, W. Römisch-Margl, W. Kremer, J. Raffler, S. Krug, T. Skurk, M. J. Rist, H. Daniel, H. Hauner, J. Adamski, M. Tomaszewski, A. Döring, A. Peters, H. E. Wichmann, B. M. Kaess, H. R. Kalbitzer, F. Huber, V. Pfahlert, N. J. Samani, F. Kronenberg, H. Dieplinger, T. Illig, C. Hengstenberg, K. Suhre, C. Gieger, G. Kastenmüller.

337T   Lipoprotein lipase gene (LPL) resequencing and plasma lipid profile. D. Pirim, F. Y. Demirci, S. C. Hughes, M. Irfan, Y. Wang, J. E. Hokanson, R. F. Hamman, C. M. Kammerer, M. I. Kamboh.

338T   Vestibular symptoms in long QT syndrome. G. Poke, J. McGaughran.

339T   Familial mutation In Kozak sequence of GATA4 associated with ASD type 2; GATA4 L325V associated with atrial fibrillation. A. V. Postma, R. Mohan, K. van Engelen, A. Ilgun, V. M. Christoffels, P. Barnett.

340T   Long QT syndrome: A preliminary study. N. Pratibha, A. Ali, FQ. Sameera, K. Thangaraj, A. Venkateshwari, C. Narsimhan.

341T   Prenatal diagnosis for cardiomyopathy: Genotype may not predict phenotype. N. Quercia, S. Baxter, B. H. Funke, A. Dipchand, S. Bowdin.

342T   Effects of common and rare genetic variants of APOC4 on HDL-cholesterol levels. Z. H. Radwan, F. Y. Demirci, J. E. Hokanson, R. F. Hamman, C. H. Bunker, C. M. Kammerer, M. I. Kamboh.

343T   G protein coupled receptor kinase 5 protein polymorphism and expression in Indian patients with cardiac failure. S. Ramalingam, T. Sairam, S. Ranjani, S. Narayanan, G. Rajendiran, J. S. Bhuvaneswaran, R. Sankaran.

344T   Genome-wide analysis of variability in normal cardiac conduction across multiple electronic medical record systems. M. D. Ritchie, R. L. Zuvich, J. C. Denny, D. C. Crawford, J. S. Schildcrout, A. H. Ramirez, J. M. Pulley, M. A. Basford, C. G. Chute, I. J. Kullo, C. A. McCarty, R. L. Chisholm, A. N. Kho, E. B. Larson, G. P. Jarvik, R. Li, D. R. Masys, J. L. Haines, D. M. Roden, CHARGE, QRS GWAS Consortium.

345T   Antagonism of GxxPG-fragments ameliorates manifestations of aortic disease in Marfan syndrome mice. P. N. Robinson, G. Guo, B. Muńoz-García, C. E. Ott, J. Grünhagen, S. Mousa, A. Pletschacher, Y. von Kodolitsch, P. Knaus.

346T   Pharmacogenetic of warfarin in Iranian patients (polymorphisms spectrum of VKORC1 and CYP2C9 ). S. Saber, O. Aryani, F. Ghasemi, A. F. Fazelifar, M. Haghjoo, R. Kia, M. Houshmand.

347T   Do ST-elevation and non-ST-elevation myocardial infarction have different genetic backgrounds? P. Salo, J. Sinisalo, T. Hiekkalinna, J. Kettunen, A. Havulinna, M. Lokki, S. Ripatti, V. Salomaa, M. Nieminen, M. Perola.

348T   Increased urinary globotriaosylceramide and previously undiagnosed Fabry patients are found in a non-selected heart disease patient population. R. Schiffmann, S. Forni, C. Swift, X. Wu, D. Lockhart, S. Pond, M. Chee, K. Goss, K. Sims, E. Benjamin, L. Sweetman.

349T   Metabochip meta-analysis of >190,000 individuals reveals 77 novel loci associated with blood lipid levels. S. Sengupta, E. M. Schmidt, Global Lipids Genetics Consortium.

350T   Genomic and epigenetic alterations in heart development tissue of congenital heart defects. C. Serra-Juhé, I. Cuscó, B. Rodríguez-Santiago, T. Vendrell, F. Borrŕs, N. Torán, L. A. Pérez-Jurado.

351T   Novel identification of genetic risk factors in Koreans reveals association of PITX2 gene with lone atrial fibrillation. D. Shin, A. Park, H. Hwang, N. Son, B. Park, J. Kwon, J. Lim, E. Shin, J. Lee, B. Joung, M. Lee, S. Kim, Y. Jang.

352T   A comprehensive approach assessing the contribution of polygenic variation to risk of cardiovascular disease. M. A. Simonson, A. G. Wills, M. B. McQueen, M. C. Keller.

353T   Interaction between GRK4 and BMI affects blood pressure. R. S. Sobota, C. D. Schoeffel, R. M. Carey, H. E. McGrath, L. N. Gordon, M. J. Park, P. A. Jose, R. A. Felder, S. M. Williams.

354T   Scanning whole exomes for variants associated with arrhythmogenic right ventricular cardiomyopathy. L. F. Tang, K. J. White, J. Pons, J. Wojciak, J. Carroll, J. Olgin, R. L. Nussbaum, M. M. Scheinman, P. Y. Kwok.

355T   Apolipoprotein B synthesis inhibition by mipomersen reduces LDL-C when added to maximally tolerated lipid-lowering medication in patients with severe heterozygous hypercholesterolemia. J. Tardif, R. Ceska, L. J. Burgess, H. Soran, I. Gouni-Berthold, G. Wegener, S. Chasan-Taber, M. McGowan.

356T   Thoracic aortic disease in two patients with juvenile polyposis and hereditary hemorrhagic telangiectasia due to SMAD4 mutations. P. Teekakirikul, D. M. Milewicz, D. T. Miller, R. V. Lacro, E. S. Regalado, A. M. Rosales, D. P. Ryan, T. L. Toler, A. E. Lin.

357T   Functional relationship of the COL4A1/COL4A2 locus on chromosome 13q34 to coronary artery disease. A. Turner, P. Lau, O. Jarinova, R. McPherson.

358T   GLUT10 connects TGFβ signaling to cellular metabolism in cardiovascular development. Z. Urban, A. Willaert, S. M. Khatri, B. L. Callewaert, P. J. Coucke, S. D. Crosby, B. L. Loeys, M. Tsang, A. De Paepe.

359T   Maternal origin of PEAR1 gene locus affects platelet response to collagen. D. Vaidya, R. A. Mathias, L. R. Yanek, R. Qayyum, N. Fadaday, B. G. Kral, D. M. Becker, L. C. Becker.

360T   Genome-wide association study of pulse pressure and mean arterial pressure identifies novel loci associated with cardiovascular disease and stroke. C. M. van Duijn, L. V. Wain, G. C. Verwoert, P. F. O'Reilly, G. Shi, T. Johnson, A. D. Johnson, M. Bochud, K. M. Rice, P. Henneman, A. V. Smith, G. B. Ehret, N. Amin, M. G. Larson, V. Mooser, D. I. Chasman, M. R. Jarvelin, A. Chakravati, G. R. Abecasis, V. Gudnason, C. Newton-Cheh, D. Levy, P. B. Munroe, B. M. Psaty, M. J. Caulfield, D. C. Rao, M. D. Tobin, P. Elliott, International Consortium of Blood Pressure Genome-Wide Association Studies.

361T   Gene expression signatures of left ventricular mass and stroke volume change in response to endurance training. D. D. Vance, L. Nathanson, M. Stoutenberg, G. Chen, R. Myerberg, K. Jacobs, J. Clark, A. Perry, D. Seo, E. Rampersaud, P. J. Goldschmidt-Clermont.

362T   microRNA-152 mediates DNMT1-regulated DNA methylation in the estrogen receptor α gene. Y. Wang, W. Chou, K. Chen, H. Cheng, R. Lin, S. Juo.

363T   Pediatric cardiomyopathy: genetic causes and utility of testing. S. M. Ware, M. Tariq, S. J. Kindel, T. Le, J. A. Towbin.

364T   9p21 Region is associated with brain white matter lesions. L. R. Yanek, P. A. Nyquist, B. G. Kral, D. Vaidya, R. A. Mathias, B. Suktitipat, T. F. Moy, L. C. Becker, D. M. Becker.

365T   An integrative pathway analysis using gene expression, single-nucleotide polymorphism and environmental factor successfully predicts disease status of hypertension. H.-C. Yang, C.-W. Lin, K.-M. Chiang, Y.-J. Liang, C.-W. Chen, S.-M. Hwang, K.-S. Lynn, J.-W. Chen, W.-H. Pan.

366T   BRCA2 variants and cardiovascular disease in a multi-ethnic cohort. K. Zbuk, M. Heydarpour, G. Pare, D. Davis, R. Miller, M. Lanktree, S. Yusuf, D. Saleheen, J. Danesh, R. Hegele, S. S. Anand.

367T   Risk variants of coronary artery disease in the chromosome 9p21 region are associated with ANRIL expression in GENOA. W. Zhao, J. A. Smith, M. Fornage, P. A. Peyser, S. T. Turner, S. L. R. Kardia.

368T   Identification of 132 new mutations of the FBN1 gene in patients with suspected Marfan syndrome. W. Zou, H. Wang, B. A. Westerfield, L. S. Pena, A. Do, G. A. Rodriguez, D. J. Penny, Y. Fan.

369T   The genetics of Brugada syndrome: A new approach. S. Le Scouarnec, P. Lindenbaum, V. Portero, A. Derevier, J.-B. Gourraud, C. Scott, J. Barc, H. Le Marec, A. Wilde, V. Probst, C. Bezzina, E. Schulze-Bahr, N. Carter, J.-J. Schott, R. Redon.

370T   Identifying at-risk genetic variants for sudden cardiac death from whole exome sequence data in the ClinSeq™ study. D. Ng, J. J. Johnston, F. M. Facio, S. G. Gonsalves, C. Krause, J. K. Teer, J. C. Mullikin, L. G. Biesecker, NIH Intramural Sequencing Center.

371T   Genetic screening of long QT syndrome in Sweden. A. Norberg, K. Cederquist, J. Jonasson, B. A. Jonsson, A. Rydberg, S. M. Jensen, E. L. Stattin.

372T   Mysteries of the past: Genetic evaluation of families with unexplained sudden cardiac death has revealed inheritable heart diseases. A. Wisten, I. Boström, S. Mörner, E. Stattin.

373T   The spectrum of SCN5A gene mutation in Singapore Brugada syndrome patients. R. Y. Y. Yong, M. Uttamchandani, B. Y. Tan, J. L. Neo, S. H. Yap, L. S. H. Gan, W. Q. Wong, R. Liew, C. K. Ching, D. T. T. Chong, C. W. F. Chong, T. W. Lim, W. Chow, S. Moochhala, E. P. H. Yap, S. C. Seow, W. S. Teo.

374T   Effects of variation in the haptoglobin gene on subclinical cardiovascular disease in the Diabetes Heart Study. J. N. Adams, A. J. Cox, B. I. Freedman, J. J. Carr, D. W. Bowden.

375T   Novel mutations in MYBPC3 in cardiomyopathy — An Indian study. A. Ali, T. R. Reena, R. Advithi, C. Narsimhan, N. Pratibha.

376T   Network-driven integrative genomics analysis of the CARDIoGRAM GWAS reveals key drivers and subnetworks of coronary artery disease. T. L. Assimes, T. Huan, S. Maouche, J. Zhu, B. Zhang, J. Erdmann, C. Nelson, K. I. E. Snell, T. Quertermous, N. Samani, H. Schunkert, X. Yang, Coronary ARtery DIsease Genome-wide Replication And Meta-analysis.

377T   Impact of genetic polymorphisms of lipoprotein lipase and the susceptibility to hypertension. Y. Chen, Y. Wang, R. Wang, C. Chen, F. Wu, T. Wu.

378T   Adiponectin SNPs do not associate with coronary artery disease in Filipino diabetics. M. L. G. Daroy, M. A. Luz, K. A. Pasion, V. C. Lacuesta, M. Mararang, M. V. Mendoza, J. T. Asi, A. A. Maliglig, J. A. Alfon, S. J. Soriano, C. A. Mapua, R. R. Matias, F. E. B. Posas.

379T   A multi-ethnic association study of C-reactive protein levels using the ITMAT Broad-CARe cardiovascular gene SNP array. J. Ellis, J. Walston, J. Dupuis, J. Baumert, E. Larkin, M. Barbalic, B. Keating, P. Durda, E. Fox, C. Palmer, Y. Meng, T. Young, R. Schnabel, C. Marzi, J. Bis, V. Ramachandran, J. Pankow, G. Lettre, E. Lange, C. Ballantyne, M. Gross, J. Wilson, N. Nock, G. Papanicolaou, W. Koening, R. Tracy, A. Reiner, E. Benjamin, NHLBI Candidate Gene Association Resource Consortium and Collaborating Cohorts.

380T   ROCK2 gene confers a risk to arterial stiffness and is translationally modulated by miR-1183. Y. C. Liao, K. C. Chen, W. W. Chou, I. W. Wang, E. Hsi, S. H. H. Juo.


Complex Traits: Theory and Methods

 

381T   Genome-wide linkage and regional association study of obesity-related phenotypes. A. Liu, T. Kelly, D. Rao, J. Hixson, L. Shimmin, C. Jaquish, D. Gu, D. Liu, J. He.

382T   Primary osteoarthritis of the hip and knee shows linkage to chromosome 2q21 in Finnish families. M. Taipale, E. Jakkula, O. Kämäräinen, S. Barral, I. Kiviranta, H. Kröger, J. Ott, L. Ala-Kokko, M. Männikkö.

383T   A high density screening of the MHC region identified two independent signals for susceptibility to ulcerative colitis. P. Goyette, G. Boucher, P.-A. Gourraud, A. Latiano, C. Lagacé, V. Annese, S. L. Hauser, J. R. Oksenberg, J. D. Rioux.

384T   Association study of celiac disease genes in Finnish inflammatory bowel disease patients. A. Parmar, M. Lappalainen, P. Paavo-Sakki, L. Halme, M. Färkkilä, U. Turunen, K. Kontula, A. Aromaa, V. Salomaa, L. Peltonen, J. Halfvarson, L. Törkvist, M. D'Amato, P. Saavalainen, E. Einarsdottir.

385T   Association analysis of 71 susceptibility loci for European Crohn’s disease in the Japanese population. K. Yamazaki, A. Hirano, J. Umeno, M. Takazoe, S. Motoya, T. Matsui, T. Matsumoto, Y. Nakamura, N. Kamatani.

386T   Gene-environment interaction effects of 17q21 variants and rhinovirus wheezing illness on risk for childhood-onset asthma. M. Caliskan, D. A. Loisel, G. Du, D. J. Jackson, J. E. Gern, R. F. Lemanske, D. L. Nicolae, C. Ober.

387T   Analysis of gene-environment interaction for plasma CRP level in a Korean cohort. E. P. Hong, J. G. Seo, D. H. Kim, J. W. Park.

388T   Liability threshold modeling of covariates increases power in case-control association studies. A. Price, N. Zaitlen, S. Lindstrom, B. Pasaniuc, M. Cornelis, G. Genovese, A. Barton, D. Bowden, S. Eyre, B. Freedman, D. Friedman, L. Groop, B. Henderson, P. Hicks, L. Kolonel, C. Langefeld, L. Le Marchand, K. Waters, C. Haiman, D. Hunter, R. Plenge, J. Worthington, D. Schaumberg, D. Chasman, D. Altshuler, B. Voight, P. Kraft, N. Patterson.

389T   Detection of Intergenerational genetic effects: A plea for pedigrees. J. S. Sinsheimer, E. J. Childs, E. M. Sobel, C. G. S. Palmer.

390T   Localization of rare variants influencing complex traits using lineage-specific linkage analysis in extended pedigrees. H. H. H. Goring, J. W. Kent, Jr., E. Drigalenko, T. D. Dyer, J. Blangero.

391T   A mutation in BMP3 contributes to canine brachycephaly. E. A. Ostrander, S. Hutchinson, A. Byers, B. Carrington, D. Faden, R. Sood, A. Boyko, J. W. Fondon, 3rd, R. K. Wayne, C. D. Bustamante, B. Ciruna, J. J. Schoenebeck.

392T   Architecture of glaucoma endophenotypes in heterozygotes carrying the myocilin K423E mutation. P. Belleau, S. Dubois, K. Lebel, R. Arseneault, E. Shink, G. Côte, M. Amyot, V. Raymond.

393T   Hepatic steatosis, hepatic inflammation and the CPN1-ERLIN1-CHUK-CWF19L1-BLOC1S2 gene cluster in the NHLBI Family Heart Study. M. F. Feitosa, M. K. Wojczynski, K. E. North, J. Wu, M. A. Province, J. J. Carr, I. B. Borecki.

394T   Body mass index-related single nucleotide polymorphisms associations with pubertal timing in 55,203 women: The ReproGen Consortium. L. Fernández-Rhodes, K. K. Ong, E. W. Demearath, J. Dreyfus, J. M. Murabito, C. E. Elks, D. I. Chasman, K. L. Lunetta, T. Esko, C. He, T. Corre, K. E. North, D. J. Hunter, J. N. Hirschhorn, N. Franceschini on behalf of ReproGen Consortium.

395T   Modeling genome-wide association SNP impact on metabolic diseases through structural equations. R. Karns, P. Succop, G. Zhang, G. Sun, S. Indugula, S. Missoni, Z. Durakovic, R. Chakraborty, P. Rudan, R. Deka.

396T   Gene set enrichment analysis with distal cis-regulatory elements in genetics of vascular dementia. Y. Kim, J. Ryu, M. Kong, C. Lee.

397T   Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis. K. Kiryluk, Y. Li, M. Rohanizadegan, S. Sanna-Cherchi, M. Choi, F. Scolari, L. Gesualdo, S. Savoldi, A. Amoroso, B. Julian, R. Wyatt, J. Novak, B. Stengel, L. Thibaudin, F. Berthoux, F. Eitner, J. Floege, U. Panzer, J. Nagy, R. Lifton, A. G. Gharavi.

398T   Phenotype mapping: An approach for integrating multidimensional genetic and phenotypic data. E. R. Martin, D. Ma, M. L. Cuccaro.

399T   Gene-expression guided selection of candidate loci and molecular phenotype analyses enhance genetic discovery in systemic lupus erythematosus. T. Niewold, Y. Koldobskaya, A. Kumar, S. Agik, J. Arrington, B. Franek, M. Kumabe, T. Utset, R. Mikolaitis, M. Jolly, A. Skol.

400T   Increasing association mapping power and resolution in mouse genetic studies through the use of meta-analysis for structured populations. E. Kang, N. Furlotte, A. Van Nas, A. Lusis, E. Eskin.

401T   Discovering pleiotropy in complex phenotypes by multivariate latent modeling. A. T. Kraja, D. C. Rao, D. K. Arnett, I. B. Borecki, S. C. Hunt, M. A. Province.

402T   A wavelet-based nonparametric approach to association analysis of functional data. H. Shim, M. Stephens.

403T   Pain-free conditional and joint association analysis from meta-analysis summary statistics uncovers additional variants for complex traits. J. Yang, M. E. Goddard, P. M. Visscher, DIAGRAM Consortium, GIANT Consortium.

404T   Understanding the genetics of vesico-ureteric reflux: From mouse models to a human cohort. C. L. Watt, J. El Andalousi, I. R. Gupta.

405T   Next-generation sequencing of IL23R reveals a novel low-frequency non-synonymous SNP that is associated with ankylosing spondylitis in a Han Chinese population. S. I. Davidson, L. Jiang, E. A. Glazov, A. Cortes, M. Donskoi, P. A. Danoy, G. P. Thomas, H. Xu, M. A. Brown.

406T   Initial results from the UK10K project to study the effects of rare variants by whole genome and exome sequencing in 10,000 phenotyped samples. R. Durbin on behalf of UK10K Project Consortium.

407T   Estimating genetic effects and quantifying missing heritability for rare variant complex trait association studies via sequence data. S. M. Leal, D. J. Liu.

408T   Whole exome sequencing in affected members of a large, multigenerational spina bifida family. C. A. Markunas, B. Rusnak, A. E. Ashley-Koch, S. G. Gregory.

409T   Identification, replication, and fine-mapping of loci associated with adult height in individuals of African ancestry. A. N'Diaye, G. K. Chen, C. D. Palmer, B. Ge, B. Tayo, R. S. Cooper, T. Pastinen, B. E. Henderson, J. N. Hirschhorn, G. Lettre, C. A. Haiman.

410T   Whole-genome sequencing to identify the genetic basis for resistance to HIV infection. K. Pelak, K. V. Shianna, D. Ge, D. B. Goldstein, NIAID Center for HIV/AIDS Vaccine Immunology.

411T   Sequencing workflow at a medium-scale genomics center. J. Romm, B. Marosy, B. Craig, K. Hetrick, H. Ling, M. Barnhart, S. Griffith, E. Pugh, K. Doheny.

412T   Pathway-based genetic association analysis for exome sequencing data. G. Wu, K. Wang, D. Zhi.

413T   Replication of GWAS candidate genes in four independent populations confirm the role of common variants and identifies the contribution of rare variants in PAX7 and VAX1 in the etiology of non-syndromic CL(P). A. Butali, S. Suzuki, M. A. Mansilla, E. Dragan, Y. Suzuki, T. Niimi, M. Yamamoto, G. Ayanga, T. Erkhembaatar, H. Furukawa, K. Fujiwawa, H. Imura, A. L. Petrin, E. Leslie, J. L'Heureux, A. C. Lidral, M. E. Cooper, N. Natsume, T. H. Beaty, M. L. Marazita, J. C. Murray.

414T   Comparison of “synthetic associations” and “natural associations” in human population genetic data. D. Chang, A. Keinan.

415T   The MHC association in celiac disease maps to a few amino acid polymorphisms in HLA-DQ. J. Gutierrez-Achury, G. Trynka, K. A. Hunt, J. Romanos, C. Wijmenga, D. van Heel, P. I. W. de Bakker.

416T   Genome-wide association study to identify variants associated with amphetamine sensitivity in humans. A. B. Hart, B. E. Engelhardt, M. Wardle, A. Skol, M. Stephens, H. de Wit, A. A. Palmer.

417T   Genetics of allergy and related phenotypes in participant-driven and cross-sectional cohorts. D. A. Hinds, G. McMahon, A. K. Kiefer, C. B. Do, N. Eriksson, M. Curran, M. Loza, D. Talantov, N. J. Timpson, D. M. Evans, B. St Pourcain, S. M. Ring, K. C. Nadeau, D. Miralles, G. Davey-Smith, J. Y. Tung.

418T   High through-put genotyping at CIDR. M. Hurley, M. Zilka, C. Oncago, J. Romn, K. Doheny.

419T   A genome-wide association analysis for chroidal neovascularization in highly myopic eyes in Japanese. M. Miyake, K. Yamashiro, H. Nakanishi, H. Hayashi, I. Nakata, Y. Kurashige, A. Tsujikawa, M. Moriyama, K. Ohno-Matsui, M. Mochizuki, T. Kawaguchi, R. Yamada, F. Matsuda, N. Yoshimura.

420T   Allele-specific enhancer variants in open chromatin at the GALNT2 human high-density lipoprotein cholesterol locus. T. S. Roman, M. P. Fogarty, S. Vadlamudi, A. F. Marvelle, K. J. Gaulton, A. J. Gonzalez, Y. Li, K. L. Mohlke.

421T   Allelic expression as a guide for functional fine-mapping in SLE. J. K. Sandling, G. Nordmark, M.-L. Eloranta, I. Gunnarsson, E. Svenungsson, L. Padyukov, G. Sturfelt, A. Jönsen, A. A. Bengtsson, L. Truedsson, C. Eriksson, S. Rantapää-Dahlqvist, C. Sjöwall, J. Kere, L. A. Criswell, R. R. Graham, T. W. Behrens, T. Pastinen, L. Rönnblom, A.-C. Syvänen.

422T   Identification of novel genes that contribute to both asthma and COPD, with replication in a large population-based cohort. J. Smolonska, G. H. Koppelman, C. Wijmenga, J. M. Vonk, P. Zanen, M. Bruinenberg, L. Franke, H. M. Groen, H. M. Boezen, D. S. Postma.

423T   Statistical approaches for assessing missing heritability. M. Stephens, X. Zhou, P. Carbonetto.

424T   Genome-wide association study of rheumatoid arthritis in an isolated population. K. E. Taylor, Y. S. Aulchenko, J. Nititham, B. Oostra, P. K. Gregersen, C. M. van Duijn, L. A. Criswell.

425T   Caucasian and Asian specific rheumatoid arthritis risk loci identified by GWAS and meta-analysis show limited replication and apparent allelic heterogeneity in North Indians. B. K. Thelma, P. Prasad, R. Gupta, A. Kumar, R. C. Juyal.

426T   Genome-wide association study for biliary atresia in a Caucasian population. E. A. Tsai, B. A. Haber, H. C. Lin, N. B. Spinner, M. Devoto.

427T   Genetic variants associated with adult height cluster in genomic loci. A. R. Wood, J. Yang, O. L. Holmen, E. Ingelsson, M. N. Weedon, S. I. Berndt, T. Esko, A. V. Smith, D. Shungin, E. Albrecht, D. Anderson, J. L. Bragg-Gresham, T. Fall, R. M. Fraser, M. E. Goddard, L. W. Jones, S. Kanoni, M. Kleber, K. Kristiansson, J. Luan, C. D. Palmer, L. Yengo, K. Hveem, P. M. Visscher, T. M. Frayling, J. N. Hirschhorn, GIANT Consortium.

428T   Using genome-wide SNP data to estimate the additive genetic variation caused by common and rare causal variants. M. C. Keller, T. de Candia, J. Yang, M. E. Goddard, P. M. Visscher.

429T   Is microsatellite polymorphism an important regulator of human phenotype? A. T. Bagshaw, S. Sawaya, N. Gemmell, D. M. Fergusson, L. J. Horwood, P. R. Joyce, M. A. Kennedy.

430T   Phenome-wide studies of SNPs from GWAS in a broadly phenotyped population. N. Eriksson, J. Y. Tung, D. A. Hinds, C. B. Do, A. K. Kiefer, B. T. Naughton, J. L. Mountain.

431T   Association study between telomere length and age-related hearing impairment in 3527 Caucasian individuals and 663 Japanese individuals. E. Fransen, S. Bonneux, N. Suzuki, S.-I. Usami, G. Van Camp.

432T   SimRare: A program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits. B. Li, G. Wang, S. M. Leal.

433T   Associated alleles at the CAV1/CAV2 locus in primary open angle glaucoma. C. Pang, M. Zhang, C. Tham, L. Chen, P. Tam, D. Lam.


Evolutionary and Population Genetics

 

434T   Exome sequencing versus whole-genome genotyping: Lessons from population genomics of high-altitude adaptations in Tibetans. S. Xu, L. Jin.

435T   Dual genetic structure of the Japanese population based on autosomal SNPs and haplotypes. Y. Yamaguchi-Kabata, T. Tsunoda, N. Kumasaka, A. Takahashi, N. Hosono, M. Kubo, Y. Nakamura, N. Kamatani.

436T   Impact of human population expansion on the load of rare and deleterious variants, and consequences for association studies. A. Clark, E. Gazave, A. Coventry, E. Boerwinkle, C. F. Sing, A. Keinan.

437T   A coalescent model for genotype imputation using large reference panels. E. M. Jewett, M. Zawistowski, N. A. Rosenberg, S. Zöllner.

438T   Allele surfing and selection evidenced from a spatial analysis of human genealogies in Quebec. C. Moreau, C. Bherer, H. Vézina, M. Jomphe, D. Labuda, L. Excoffier.

439T   Saudi NGHA biobank: Designed study as a longitudinal investigation of constitutional and environmental factors influencing genetics disease in Saudi Arabia. I. Al Abdulkareem, M. Albalwi, M. Aljumah.

440T   Secretor genotype (FUT2 gene, rs601338) is strongly associated with the composition of bifidobacteria in the human intestine. N. Alakulppi, P. Wacklin, H. Mäkivuokko, J. Nikkilä, H. Tenkanen, P. Sistonen, J. Räbinä, J. Partanen, K. Aranko, J. Mättö.

441T   Facts related to the collection of biological samples in the National Health Examination Survey — Portuguese component of the European Health Examination Survey. M. Barreto, V. Francisco, P. Rasteiro, E. Sousa, A. Vicente, M. Bourbon, A. Fernandes, A. Beleza, F. Mendonça, A. Gil, C. Matias Dias.

442T   Complexities in geneticists' views on “race” crossing: No evidence for change on “political” grounds. E. B. Hook.

443T   Tracing the population origin of non-European chromosomal segments identified by the method of rare heterozygotes and homozygotes in admixed subjects of European Caucasian descent. R. McGinnis, W. McLaren.

444T   Killer cell immunoglobulin like receptors distribution in healthy Brazilian Caucasian kidney donors. M. M. Moraes, R. Benvenutti, C. Gomes, C. Pozzi, F. L. C. Contieri, M. G. Bicalho.

445T   Genetic ancestry and population structure of geographically separated African American populations. M. C. Y. Ng, S. Sajuthi, A. Cupples, J. Divers, J. Dupuis, M. Fornage, L. Kao, E. Larkin, M. Li, C. T. Liu, S. Musani, J. Mychaleckyj, G. Papanicolaou, A. Reiner, D. Siscovick, X. Zhu, B. Freedman, J. Wilson, D. W. Bowden.

446T   Human adaptation and evolution in response to helminth parasites. B. Sadler.

447T   Integrating population diversity, conservation, and epigenomic information at regulatory elements, noncoding transcripts, and disease-associated regions. L. D. Ward, R. C. Altshuler, P. Kheradpour, J. Ernst, O. Zuk, M. Garber, K. Lindblad-Toh, E. Birney, M. Kellis, ENCODE Consortium.

448T   EPAS1 and EGLN1 associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau. N. Buroker, X.-H. Ning, Z.-N. Zhou, K. Li, W.-J. Cen, X.-F. Wu, W.-Z. Zhu, C. R. Scott, S.-H. Chen.

449T   The landscape of recombination in African Americans. A. G. Hinch, A. Tandon, N. Patterson, Y. Song, N. Rohland, C. D. Palmer, G. K. Chen, K. Wang, S. G. Buxbaum, S. Redline, J. N. Hirschhorn, B. E. Henderson, H. A. Taylor, Jr., A. L. Price, H. Hakonarson, S. J. Chanock, C. A. Haiman, J. G. Wilson, D. Reich, S. R. Myers, AABCC, AALCC, AAPCC, CARe, CHOP.

450T   Ancestry informative marker set for Han Chinese population. H. Q. Qu, Q. Li, J. B. McCormick, S. Xu, M. Xiong, J. Qian, L. Jin.

451T   Spinal muscular atrophy: Improved detection of silent (2+0) carriers by identification of SMN1 founder alleles. M. Luo, L. Liu, I. Peter, S. Scott, C. Eversley, R. Kornreich, R. J. Desnick, L. Edelmann.

452T   Low depth, whole genome sequencing of Dai population isolate demonstrates superiority over use of whole genome genotyping arrays in uncovering population structure, demographic history and selective pressures in non-European populations. L. J. M. Coin, R. Y. Chen, F. Zhang, Y. R. Li, C. Yu, R. N. Gutenkunst, Y. Wang, R. Nielsen, W. W. Wu.

453T   Host genetic variants and Epstein-Barr viral load in the HapMap lymphoblastoid cell lines. C. J. Houldcroft, A. Gall, A. L. Palser, S. J. Watson, P. Kellam.

454T   Exome sequencing in an isolate population. A. Ramachandran, E. Sehayek, J. Breslow, J. Friedman, R. Lifton, I. Pe'er.

455T   Derived SNP alleles are more frequently used as risk-associated variants in common human diseases. O. Gorlova, J. Ying, C. Amos, M. Spitz, I. Gorlov.

456T   Studies on different samples of western Amazon populations converge to a genetic association between a specific region of human chromosome 4 and malaria infection. J. Pescarini, A. La Luna, R. M. G. Ferreira, L. C. Pereira, C. E. M. Kawamata, F. A. B. Santos, L. M. A. Camargo, H. Krieger, L. M. Garrido.

457T   Bayesian inference of genealogy from population genomic data by the spatial Markov coalescent with recombination. C. Zheng, E. A. Thompson.

458T   Genome-wide structure patterns of Native American and admixed populations across South America inferred from dense SNP array data. P. A. Ortiz-Tello, A. Moreno-Estrada, C. R. Gignoux, D. Yang-Yao, P. J. Norman, E. Sanchez-Rodriguez, J. K. Byrnes, F. Zakharia, S. Gravel, M. Jobin, C. Eng, S. Huntsman, K. Sandoval, Z. Layrisse, G. Bedoya, P. Parham, A. Ruiz-Linares, D. Luiselli, D. Pettener, M. Alarcon-Riquelme, E. González Burchard, C. D. Bustamante.

459T   Association between high myopia-associated genetic polymorphisms and ocular biometric parameters in middle-aged and elderly people. J. H. Chen, S. Huang, Y. Zheng, H. Chen, P. O. S. Tam, D. S. C. Lam, M. Zhang, C. P. Pang.

460T   The polymorphisms of the APOBEC3H gene in the Pumwani sex worker cohort and the associations with the susceptibility/resistance to HIV-1. M. Luo, S. Wang, D. Tang, J. Sainsbury, P. Lacap, J. Kimani, C. Wachihi, M. Kimani, F. Plummer.

461T   Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil. C. T. Mendes-Junior, N. C. A. Fracasso, E. S. Andrade, C. C. F. Andrade, L. R. Zanăo, M. S. Silva, L. A. Marano, C. E. V. Wiezel, E. A. Donadi, A. L. Simőes.

462T   Optimal algorithm for haplotype phasing with genome-sequencing and imputation. D. He, B. Han, E. Eskin.

463T   LD patterns in dense variation data reveal information about the history of human populations worldwide. S. Myers, G. Hellenthal, D. Lawson, G. Busby, S. Leslie, B. Winney, P. Donnelly, W. Bodmer, POBI Consortium, C. Capelli, D. Falush.

464T   A large-scale, multi-racial replication study identifies novel systemic lupus erythematosus susceptibility loci at IRF8, TMEM39A, and IKZF3/ZPBP2. C. J. Lessard, I. Adrianto, J. A. Ice, J. A. Kelly, H. Li, G. B. Wiley, A. Rasmussen, M. E. Alarcon-Riquelme, J. M. Anaya, S. C. Bae, E. E. Brown, C. O. Jacob, J. A. James, J. Martin, T. B. Niewold, B. A. Pons-Estel, B. P. Tsao, T. J. Vyse, J. B. Harley, E. K. Wakeland, K. M. Kaufman, C. G. Montgomery, C. D. Langefeld, P. M. Gaffney, K. L. Moser.

465T   Differential expression of CD8 variants amongst infected and uninfected men enrolled in the Pittsburgh Center of the Multicenter AIDS Cohort Study. R. S. Bosko Marino, L. Kingsley, J. Martinson, Multicenter AIDS Cohort Study.

466T   Polymorphisms in IL22RA2 are associated with aggravation of severe hepatic fibrosis caused by Schistosoma japonicum and S. mansoni. A. Dessein, M. Sertorio, X. Hou, J. Li, X. Luo, M. Abdelwahed, A. Ahmed Hamdoun, H. He, S. A. Abdelmaboud, J. Zhou, A. Monis, A. Varoquaux, N. Eldin Elwali, L. Argiro, Y. Lee.

467T   Fine-mapping of 13q14 locus associated with susceptibility to leprosy and Crohn’s disease. F. Takeuchi.

468T   The impact of linkage disequilibrium on inferring coancestry in populations. E. A. Thompson, M. D. Brown, C. G. Glazner, C. Zheng.

469T   Linkage disequilibrium decay and past population history in the human genome. L. Park.

470T   Population substructure effect in a case-control study of multiple sclerosis in Bogota, Colombia. W. A. Cardenas, R. Pereira, M. C. Lattig, H. Groot, J. Toro, A. Amorim, L. Gusmăo.

471T   Meta-analysis of genome-wide ancestry on over 7,000 African American and Hispanic/Latino individuals identifies novel asthma-associated genetic loci. C. R. Gignoux, D. G. Torgerson, J. L. Galanter, L. A. Roth, R. D. Hernandez, S. Sen, R. Mathias, K. C. Barnes, E. González Burchard, EVE Consortium.

472T   Association of mitochondrial DNA sequence with longevity in Turkish population. H. H. Aydin, O. Guney, H. Ak Celik.

473T   Mitochondrial DNA in Myanmar: Insights into the peopling of Southeast Asia. J. Horst, M. Summerer, D. Horst, G. Erhart, B. Horst, A. Manhart, T. Sanguansermsri, F. Kronenberg, A. Kloss-Brandstätter.

474T   Diversity of the 3' untranslated region of the HLA-G gene in Amerindians from the Brazilian Amazon and the influence of Natural Selection. N. F. Cagnin, C. T. Mendes-Junior, E. C. Castelli, E. A. Donadi, A. L. Simőes.

475T   Search for selection in coding regions surrounding large insertions and deletions between humans and four primate species. W. Guiblet, K. Zhao, A. L. Roca, J. C. Martínez-Cruzado, S. Massey, T. K. Oleksyk.

476T   Intra-European allele frequency differences at height-associated SNPs suggest widespread selection on standing variation. J. N. Hirschhorn, M. C. Turchin, C. W. K. Chiang, C. D. Palmer, S. Sankararaman, D. E. Reich, GIANT Consortium.

477T   Shared signatures of selection in the genomes of chimpanzees and humans. E. M. Leffler, S. Pfeifer, L. Ségurel, A. Auton, O. Venn, R. Bontrop, R. Bowden, J. Broxholme, A. Fledel-Alon, R. Hernandez, P. Humburg, Z. Iqbal, G. Lunter, J. Maller, S. C. Melton, T. Street, A. Venkat, S. Myers, P. Donnelly, G. McVean, M. Przeworski.

478T   Population specific susceptibility to Crohn’s disease and signals of natural selection on standing variation. S. Nakagome, S. Mano, L. Kozlowski, J. M. Bujnicki, H. Shibata, Y. Fukumaki, J. R. Kidd, K. K. Kidd, S. Kawamura, H. Oota.

479T   Metabolic insight into mechanisms of high-altitude adaptation in Tibetans. T. S. Simonson, R. L. Ge, R. C. Cooksey, C. D. Huff, T. N. Wuran, J. Xing, G. Qin, D. J. Witherspoon, B. ZhengZhong, J. T. Prchal, D. M. McClain, L. B. Jorde.

480T   Accelerated evolution of brain specific microRNAs in Homo sapiens. S. Chakraborty, M. M. Ali, R. Chakravorty.

481T   Association of the European lactase persistence variant (LCT-13910 C>T polymorphism) with obesity in the Canary Islands by Mendelian randomization. R. Almon, E. E. Alvarez-Leon, L. Serra-Majem.

482T   Differential selection pressures drive allelic variation of the Toll-like receptor-2 locus in two closely related genus Macaca species, M. mulatta and M. fuscata. M. Yasunami, A. Takaki, A. Yamazaki, T. Maekawa, H. Shibata, K. Hirayama, A. Kimura, H. Hirai.

483T   Genomic variation in a Brazilian population. G. Ananina, J. P. C. Vasconcellos, R. Vicentini, F. Menaa, F. F. Costa, M. B. de Melo.

484T   Mitochondrial DNA heterogeneity within and among East African Bantu ethnic groups and their complex evolutionary histories. K. Batai, C. M. Kusimba, E. Leenheer, S. R. Williams.

485T   Estimating genetic ancestry using a 5-population model. M. Bauchet, J. J. Bryan, A. B. Carter, V. L. Vance, H. Y. Chen, C. L. Mouritsen.

486T   Changes in site frequency spectrum due to recent genealogic connections in the Quebec population. C. Bherer, M.-H. Roy-Gagnon, L. Excoffier, H. Vézina, D. Labuda.

487T   The occurence of factor V Leiden in Roma (Gypsy) and majority population in Slovakia. A. Bozikova, I. Bernasovsky, D. Gabrikova, R. Behulova, I. Boronova.

488T   An admixture simulation program for use in validating genetic ancestry estimation systems. J. J. Bryan, V. L. Vance, M. Bauchet, C. L. Mouritsen.

489T   Estimating heterozygosity rates of low-coverage sequence genomes by leveraging joint spectra. K. Bryc, N. Patterson, D. Reich.

490T   Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis. R. Cagliani, M. Fumagalli, F. R. Guerini, S. Riva, D. Galimberti, G. P. Comi, C. Agliardi, E. Scarpini, U. Pozzoli, D. Forni, D. Caputo, R. Asselta, M. Biasin, E. M. Paraboschi, N. Bresolin, M. Clerici, M. Sironi.

491T   The development of interactive maps to further describe Y and mtDNA haplogroups — A new educational tool. H. Y. Chen, C. L. Mouritsen, A. B. Carter.

492T   Inferring admixture proportions and recent admixture events. D. J. M. Crouch, M. E. Weale.

493T   Genomic stability of B lymphoblastoid cell lines established from the Sonoda-Tajima Cell Collection, the collection of South American indigenous populations. I. Danjoh, K. Saijo, M. Nagayoshi, Y. Nakamura.

494T   Sampling scheme as a determinant of the major axis of genetic variation in principal components analysis. M. DeGiorgio, N. A. Rosenberg.

495T   Genomic insights into recent human adaptations driven by selection on standing variation. L. S. Emery, J. M. Akey.


Psychiatric Genetics, Neurogenetics and Neurodegeneration

 

496T   SCN1B sequence variations in Iranian patients with epilepsy. B. Sedaghatikhayat, M. Moghaddasi, M. Houshmand, S. Zeinali, S. H. Tonekaboni, M. S. Fallah, M. Mamarabadi, A. Ebrahimi.

497T   Clinical and genetic heterogeneity in autosomal dominant partial epilepsy with auditory features: Implications for genetic counseling. F. Rossi Torres, E. Bilevicius, R. Secolin, N. F. Santos, E. Kobayashi, L. A. C. Sardinha, F. Cendes, I. Lopes-Cendes.

498T   A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. K. Yamada, K. Miura, K. Hara, M. Suzuki, N. Nakanishi, T. Kumagai, N. Ishihara, Y. Yamada, R. Kuwano, S. Tsuji, N. Wakamatsu.

499T   Heritability and familiality of personality dimensions in the Korean schizophrenic LD families. B. Lee, Y. Chung, J. Park, S. Kim, C. Kang, J. Kim, Y. Lee, E. Moon.

500T   Fragile X, intermediate, and premutation alleles in the Autism Genetic Resource Exchange. W. Brown, A. Glicksman, X. Ding, N. Ersalesi, C. Dobkin, S. Nolin.

501T   Translational profiling mouse models of Fragile X-associated tremor/ataxia syndrome. J. N. Galloway, C. Shaw, P. Yu, D. L. Nelson.

502T   NAT1 and tobacco smoke exposure in multiple sclerosis: Evidence for a gene-environment interaction. L. Barcellos, F. Briggs, B. Acuna, L. Shen, P. Ramsay, H. Hong, A. Bernstein, C. Schaefer.

503T   Gene-environment and functional classification analyses suggest novel candidate genes and processes that may be contributing to the susceptibility of adult-onset multiple sclerosis. F. Briggs, B. Acuna, L. Shen, P. Ramsay, H. Quach, A. Bernstein, C. Schaefer, L. Barcellos.

504T   A study of depression and anxiety among female carriers of the FMR1 premutation and the impact of raising a child with Fragile X syndrome: Evidence for moderation by the corticotrophin-releasing hormone receptor 1 gene. J. E. Hunter, A. Abramowitz, J. F. Cubells, S. L. Sherman.

505T   A molecular mechanism underlying the interaction of serotonin transporter gene polymorphism and stress on central serotonin transmission and risk of depression. A. J. Jasinska, C. A. Lowry, M. Burmeister.

506T   BDNF Val66Met genotype as a moderator of early life stress response but not late life stress response and its impact on negative affectivity. C. Lattig, C. Perea, A. Paternina, Y. Gomez.

507T   Alcohol use in the onset of rapid-onset dystonia-parkinsonism, DYT12. B. M. Snively, D. F. Hill, N. Boggs, L. Ozelius, K. J. Sweadner, C. Suerken, W. V. McCall, A. Brashear.

508T   Childhood adversity increases risk for nicotine dependence and interacts with alpha-5 nicotinic acetylcholine receptor genotype specifically in males. P. Xie, H. R. Kranzler, H. Zhang, D. Oslin, R. F. Anton, L. A. Farrer, J. Gelernter.

509T   Interaction of personality and CHRNA5 in cocaine-dependence and cocaine-induced paranoia. T. Zayats, BZ. Yang, H. Kranzler, P. Xie, J. Poling, D. Oslin, L. Farrerr, J. Gelernter.

510T   Changes in expression profiles of differentiated SK-N-SH cells resulting from over-expression of MECP2_e1 and MECP2_e2. M. Orlic-Milacic, L. Kaufman, A. Mikhailov, P. Gianakopoulos, B. Minassian, J. Vincent.

511T   Exploring established multiple sclerosis susceptibility loci in a Hispanic cohort. A. H. Beecham, A. Hadjixenofontos, P. L. Whitehead, I. Konidari, D. Martinez, E. Lalanne, K. Belanger, L. Espinoza, S. Clarke, S. Delgado, J. L. Haines, M. A. Pericak-Vance, J. L. McCauley.

512T   Genome-wide association analyses identifies novel loci associated with the onset age among cases with late-onset Alzheimer’s disease. K. L. Hamilton-Nelson, A. C. Naj, Y. S. Park, R. Rajbhandary, G. W. Beecham, E. R. Martin, R. Mayeux, J. L. Haines, L. A. Farrer, G. D. Schellenberg, M. A. Pericak-Vance, Alzheimer's Disease Genetics Consortium.

513T   A novel set of genetic variants associated with autism spectrum disorder susceptibility is revealed by application of the pathway-PDT. Y. S. Park, M. Schmidt, E. R. Martin, P. W. Whitehead, I. Konidari, M. L. Cuccaro, J. L. Haines, M. A. Pericak-Vance, R. H. Chung.

514T   Fine-mapping of the MHC association in multiple sclerosis using imputation. N. A. Patsopoulos, P. L. De Jager, P. I. W. de Bakker on behalf of ANZgene, GeneMSA, IMSGC.

515T   From linkage to sequencing: Using cross-family IBD sharing to refine susceptibility loci in Tourette syndrome multi-generational families. V. Ramensky, D. Yu, S. Service, C. Mathews, P. Heutink, B. Oostra, P. Sandor, C. Barr, R. Kurlan, D. Pauls, N. Cox, N. Freimer, J. M. Scharf, Tourette Syndrome Association International Consortium for Genetics, Bayside, NY.

516T   A family-based association and brain expression analysis of the reading disabilities candidate gene DYX1C1. C. Tran, K. Wigg, F. Yu, L. Gomez, B. De Souza, T. Cate-Carter, A. Pitch, E. Kerr, M. Lovett, L. Field, B. Kaplan, C. L. Barr.

517T   Refinement of the chromosome 3p22 region of interest for bipolar affective disorder and identification of a putative candidate gene. R. Secolin, L. F. B. Mella, M. L. Santos, P. Dalgalarrondo, C. E. M. Banzato, I. Lopes-Cendes.

518T   SNPs genotyping and homozygosity mapping to identify candidate loci in a consanguineous family affected by a congenital muscular dystrophy with hyperlaxity. M. Tétreault, M. Vanasse, B. Brais.

519T   Identification of the tRNA methyltransferase gene NSUN2 as the gene for a new form of autosomal recessive intellectual disability. J. B. Vincent, M. A. Khan, M. A. Rafiq, A. Noor, S. Hussain, V. Rupp, A. K. Vincent, J. Flores, G. E. Ishak, D. Doherty, R. Weksberg, M. Ayub, C. Windpassinger, S. Ibrahim, M. Ansar.

520T   Serotonin gene expression significant changes: Could it be evidence for psoriasis related to depression? S. Ghasemi, G. Ahangari, H. Mortazavi, R. Torabi, M. Mohamadian.

521T   A comprehensive nationwide epidemiological survey for Pelizaeus-Merzbacher disease and associated disorders in Japan. K. Inoue, Y. Numata, T. Ohkubo, E. Arima, A. Iwaki, K. Kurosawa, J. Takanashi, K. Deguchi, T. Yamamoto, H. Osaka.

522T   A deep intronic mutation in an ataxia telangiectasia patient identified by genomic resequencing of the ATM region. S. Cavalieri, R. A. Gatti, A. Brusco.

523T   Whole exome sequencing in first degree cousin pairs with early age-at-onset bipolar disorder. D. Chen, N. Akula, C. J. M. Steele, L. Kassem, F. J. McMahon, Bipolar Genome Study.

524T   Complete screening of GBA mutations in Brazilian Parkinson’s disease patients. B. C. Guimarăes, A. V. Santos, J. M. Santos, M. Campos, Jr., F. L. Santos, A. L. Z. Rosso, D. H. Nicaretta, J. S. Pereira, D. J. Silva, C. B. Santos-Rebouças, M. M. G. Pimentel.

525T   Next-generation sequencing of known and putative susceptibility genes for schizophrenia and autism spectrum disorders to detect rare high-penetrant risk variants. E. M. Kenny, S. Furlong, P. Cormican, C. Fahey, R. Anney, G. Donohoe, A. P. Corvin, L. Gallagher, M. Gill, D. W. Morris.

526T   Screening of PARKIN mutations in Brazilian patients with early onset Parkinson’s disease. K. V. Moura, M. Campos, Jr., F. C. Rodrigues, F. L. Santos, A. L. Z. Rosso, D. H. Nicaretta, J. S. Pereira, D. J. Silva, C. B. Santos-Rebouças, M. M. G. Pimentel.

527T   Population-based association study of the dopamine receptor D4 gene in attention deficit hyperactivity disorder and response inhibition. S.-M. Shaheen, S. Ickowicz, J. Crosbie, A. Paterson, R. Schachar, B. Li, P. Arnold.

528T   A genome-scan for shared autism spectrum disorder and specific language impairment loci. C. W. Bartlett, L. Hou, J. F. Flax, Z. Fermano, A. Hare, S. Y. Cheong, S. Buyske, L. M. Brzustowicz.

529T   Smoothed functional principal component analyses of two independent GWA studies identify 67 genes significantly associated with schizophrenia. X. Chen, Y. Zhu, J. Chen, M. Xiong.

530T   Analysis of SNPs with an effect on gene expression identifies spermatogenesis-associated protein 7 as a potential candidate gene for schizophrenia. J. Chen, L. Liu, K. Kendler, X. Chen.

531T   A genome-wide association study of autism spectrum disorders incorporating assessment items from ADI-R, ADOS, and SRS. J. J. Connolly, J. T. Glessner, H. Hakonarson.

532T   Genome-wide association analyses using cerebrospinal fluid tau and phospho-tau and Aβ42 levels as endophenotypes for Alzheimer ’s disease. C. Cruchaga, J. S. K. Kauwe, D. McKean, M. Bailey, D. Patty, K. Mayo, S. Bertelsen, A. Hinrichs, E. R. Peskind, G. Li, J. B. Leverenz, D. Galasko, A. M. Fagan, D. M. Holtzman, A. M. Goate, Alzheimer’s Disease Genetic Consortium and Alzheimer’s Disease Neuroimaging Initiative.

533T   Genome-wide study and whole-exome sequencing for dementia in the Amish. A. C. Cummings, L. Liang, D. Velez Edwards, R. Laux, L. L. McFarland, L. Caywood, L. Reinhart-Mercer, D. Fuzzell, C. Knebusch, C. E. Jackson, W. K. Scott, M. A. Pericak-Vance, J. L. Haines.

534T   Genome-wide association analysis localizes a QTL influencing serum brain-derived neurotrophic factor levels in a single large extended pedigree. V. P. Diego, S. Kumar, J. W. Kent Jr., T. D. Dyer, S. L. Santangelo, D. C. Glahn, J. L. VandeBerg, J. Blangero, S. Williams-Blangero.

535T   Genome-wide association study of symptomatic dimensions of schizophrenia. A. Fanous, B. Zhou, S. E. Bergen, S. H. Aggen, R. L. Amdur, J. Duan, A. R. Sanders, J. Shi, B. J. Mowry, A. Olincy, F. Amin, R. Cloninger, J. M. Silverman, N. G. Buccola, W. F. Byerley, D. W. Black, R. Freedman, F. Dudbridge, P. A. Holmans, P. V. Gejman, K. S. Kendler, D. F. Levinson.

536T   Genetics of susceptibility to multiple sclerosis. G. Hellenthal, International Multiple Sclerosis Genetics Consortium and Wellcome Trust Case Control Consortium 2.

537T   Genome-wide association study for Parkinson’s disease in the mid-western U.S. Amish. L. Jiang, M. F. Davis, A. C. Cummings, D. Velez Edwards, R. Laux, L. L. McFarland, L. Reinhart-Mercer, D. Fuzzell, C. Knebusch, C. E. Jackson, W. K. Scott, M. A. Pericak-Vance, S. L. Lee, J. L. Haines.

538T   Genome-wide association study of treatment refractory schizophrenia in Han Chinese. M. Lee, H. Wang, Y. Liou, Y. Chen, C. Hong, J. Wu.

539T   Meta-analysis of Parkinson disease genome-wide association studies: Identification of a novel locus, RIT2, and multiple effects within known loci. N. Pankratz, G. W. Beecham, A. L. DeStefano, T. Dawson, K. F. Doheny, S. A. Factor, T. H. Hamza, A. Y. Hung, B. T. Hyman, A. J. Ivinson, D. Krainc, J. C. Latourelle, L. N. Clark, K. Marder, E. R. Martin, R. Mayeux, O. A. Ross, C. R. Scherzer, D. K. Simon, C. Tanner, J. M. Vance, Z. K. Wszolek, C. P. Zabetian, R. H. Myers, H. Payami, W. K. Scott, T. Foroud, PD GWAS Consortium.

540T   Significant association of coding (missense) SNPs with familial LOAD based on a functional genome-wide association screen. A. R. Parrado, K. Mullin, B. Hooli, L. Gotta, L. Bertram, C. Lange, R. E. Tanzi.

541T   Genetics of cortical thickness in 822 twins. A. S. Quiggle, N. K. Hansell, K. A. Johnson, G. A. Blokland, K. L. McMahon, G. W. Montgomery, P. M. Thompson, N. G. Martin, G. I. de Zubicaray, M. J. Wright.

542T   Genetics of cerebral asymmetry in the caudate nucleus. M. E. Renteria, J. L. Stein, K. Johnson, S. E. Medland, K. L. McMahon, G. I. de Zubicaray, G. Montgomery, P. M. Thompson, N. G. Martin, M. J. Wright.

543T   Japanese subsequent GWAS identifies strong association at a novel risk locus and MCCC1 for Parkinson's disease. W. Satake, K. Yamamoto, Y. Nakabayashi, M. Kubo, T. Morizono, T. Kawaguchi, T. Tsunoda, H. Tomiyama, M. Yamamoto, N. Hattori, M. Murata, Y. Nakamura, T. Toda.

544T   Genome-wide association study of narcolepsy with cataplexy in Japanese population. H. Toyoda, T. Miyagawa, S. Khor, M. Kawashima, M. Yamasaki, A. Koike, Y. Honda, M. Honda, K. Tokunaga.

545T   CDH13: GWAS, brain distribution and mouse model studies support roles in addiction and ability to quit smoking. G. Uhl, J. Drgonova, D. Walter, B. Ranscht.

546T   Investigating the association between the glutamate system genes SLC1A1, DLGAP3, and GRIN2B and sub-phenotypes of obsessive-compulsive disorder. P. D. Arnold, B. T. Doan, J. Beneteau, S. Taillefer, S. Shaheen, S. E. Stewart, J. L. Kennedy, M. A. Richter, OCD Mini-Collaborative.

547T   The catechol-O-methyltransferase Val158Met polymorphism and the decision making in bipolar disorder. S. B. Campos, D. M. Miranda, M. A. Romano-Silva, F. S. Neves, F. M. Passos, L. F. Malloy-Diniz, H. Correa.

548T   A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging. O. Chiba-Falek, J. M. McEvoy, C. Linnertz, D. Attix, M. Kuchibhatla, A. M. Saunders, M. W. Lutz, K. A. Welsh-Bohmer, A. D. Roses, K. M. Hayden.

549T   Calcium-channels are implicated in human episodic memory: Evidence from a pathway analysis in healthy individuals. A. Heck, M. Fastenrath, L. Gschwind, C. Vogler, S. Ackermann, K. Spalek, D. de Quervain, A. Papassotiropoulos.

550T   A preliminary study of genotype-phenotype correlations for rare copy number variants in children with obsessive-compulsive disorder. B. Li, M. Marshall, A. Lionel, S.-M. Shaheen, S. W. Scherer, G. L. Hanna, J. L. Kennedy, D. R. Rosenberg, P. D. Arnold.

551T   Association of multiple sclerosis risk variants of IRF5 with cerebrospinal fluid levels of the putative prognostic marker CXCL13. M. Lindén, M. Khademi, I. Lima Bomfim, J. Hillert, T. Olsson, I. Kockum.

552T   Allelic differences between Han Chinese and Europeans for functional variants in ZNF804A and their association with schizophrenia. B. Su, M. Li, X. Luo, X. Xiao, L. Shi, X. Liu, L. Yin, H. Diao.

553T   Using cluster analysis to identify homogenous subgroups within the autism spectrum. O. J. Veatch, B. L. Yaspan, N. Schnetz-Boutaud, M. A. Pericak-Vance, J. L. Haines.

554T   Chromosome 9p21 is associated with frontotemporal lobar degeneration in Finland. A. E. Renton, A. M. Remes, A.-L. Kaivorinne, T. Peuralinna, P. J. Tienari, B. J. Traynor.

555T   Genome-wide scan suggested novel Alzheimer disease susceptibility genes by factoring influence of APOE. J. Buros, G. Jun, B. N. Vardarajan, K. L. Lunetta, R. Mayeux, J. Haines, M. A. Pericak-Vance, G. Schellengberg, L. A. Farrer, Alzheimer's Disease Genetics Consortium.

556T   Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis. N. Kurotaki, H. Mishima, S. Ono, A. Imamura, S. Tasaki, T. Kukuchi, N. Nishida, K. Tokunaga, KI. Yoshiura, H. Ozawa.

557T   Association study of cathepsin D gene polymorphism with Alzheimer's disease. M. Noruzinia, A. Sayad, M. Zamani, M. Harirchian, A. KazemNezhad, E. ShahsavandAnanloo.

558T   Intersecting copy number variants and whole exome sequencing for diagnosis of FA2H mutations. D. R. Simeonov, M. Sincan, T. C. Markello, D. A. Adams, C. Toro, G. Golas, C. F. Boerkoel, W. A. Gahl, T. Pierson.

559T   Exome re-sequencing in familial hemiplegic migraine with linkage to 14q32. M. Vila-Pueyo, E. Cuenca-Leon, I. Garcia-Martínez, F. Castro, I. Gut, M. Bayes, B. Cormand, A. Macaya.

560T   Association of CNTNAP2 with specific language impairment related phenotypes. S. Cheong, L. Hou, J. Flax, S. Petrill, P. Tallal, L. Brzustowicz, C. Bartlett.

561T   Association of 18q22.1 with specific language impairment susceptibility. N. Li, L. Hou, J. Flax, S. Petrill, P. Tallal, L. Brzustowicz, C. Bartlett.

562T   Linkage and candidate gene analysis identifies a rare variant in NRG1 associated with cannabis dependence in African Americans. S. Han, J. Gelernter, H. Kranzler, B. Yang.

563T   Cytochrome P450 downregulation in Niemann-Pick disease type C. C. V. M. Cluzeau, N. Al Eisa, D. E. Watkins-Chow, R. Fu, B. Borate, M. K. Dail, C. A. Wassif, F. M. Platt, W. J. Pavan, F. D. Porter.

564T   Age-dependent Parkinson disease risk assessment for GBA mutation carriers. H. Q. Rana, M. Balwani, L. Bier, R. N. Alcalay.

565T   Endophenotype-based discovery of a novel risk locus for alcoholism: CYP7B1. L. Almasy, M. A. Carless, R. Olvera, J. Kent, T. D. Dyer, M. P. Johnson, J. E. Curran, E. K. Moses, H. H. H. Göring, R. Duggirala, J. Blangero, D. Glahn.

566T   Association between the COL25A1 gene and anti-social personality disorder co-morbid with drug dependence. D. Li, H. Zhao, H. R. Kranzler, D. Oslin, R. F. Anton, L. A. Farrer, J. Gelernter.

567T   Genomic characterization of schizophrenia candidate gene regions. A. Nato, X. Kong, B. Byrne, J. Naus, D. Gordon, S. Buyske, L. Brzustowicz, T. Matise.

568T   Next-generation sequencing follow-up study on the late-onset Alzheimer disease susceptibility gene MTHFD1L. J. R. Gilbert, M. A. Kohli, A. C. Naj, A. J. Griswold, J. M. van Baaren, T. E. Plitnik, P. L. Whitehead, G. W. Beecham, E. R. Martin, M. L. Cuccaro, C. B. Wright, E. Crocco, J. L. Haines, M. A. Pericak-Vance.

569T   Identification of autism risk variants through targeted next-generation sequencing in a 1000 case and 1000 control cohort. A. J. Griswold, D. Hedges, R. Chung, J. Rantus, P. Whitehead, I. Konidari, W. Hulme, S. Slifer, J. Jaworski, S. M. Williams, R. Menon, M. L. Cuccaro, E. R. Martin, J. R. Gilbert, J. L. Haines, J. P. Hussman, M. A. Pericak-Vance.

570T   Deep sequencing of the LRRK2 gene in 14,002 individuals to guide the clinical development of LRRK2 inhibitors. J. P. Rubio, S. Topp, L. Warren, P. L. St. Jean, J. Shen, D. Kessner, J. Novembre, D. Fraser, J. Aponte, K. Nangle, L. R. Cardon, M. G. Ehm, S. L. Chissoe, J. C. Whittaker, M. R. Nelson, V. E. Mooser.

571T   Whole-exome sequencing of 40 obsessive-compulsive disorder patients. D. Trujillano, S. Ossowski, C. Tornador, P. Alonso, M. Gratacňs, X. Estivill.

572T   Difficulties in prenatal diagnosis of metachromatic leukodystrophy. E. Khalili, M. Hooshmand, O. Aryani.

573T   Impaired FLNA expression disrupts radial glia functions leading to periventricular heterotopia in rats and humans. A. Carabalona, S. Beguin, E. Pallesi-Pocachard, E. Buhler, C. Pellegrino, K. Arnaud, P. Hubert, M. Oualha, S. Khantane, I. Coupry, C. Goizet, A. Bernabe Gelot, A. Represa, C. Cardoso.

574T   Deep sequencing in mental retardation. M. Gratacos, J. González, I. Madrigal, L. Rodríguez, M. Milŕ, X. Estivill, R. Rabionet.

575T   Parent-child trio exome sequencing in non-syndromic intellectual disability. F. F. Hamdan, H. Daoud, A. Dionne-Laport, D. Spiegelman, S. Dobrzeniecka, E. Henrion, O. Diallo, J. M. Capo-chichi, S. L. Girard, G. A. Rouleau, J. L. Michaud.

576T   Mutations in SPTAN1 in intellectual disability and pontocerebellar atrophy. J. L. Michaud, H. Saitsu, K. Nishiyama, J. Gauthier, S. Dobrzeniecka, D. Spiegelman, J. C. Lacaille, J. C. Décarie, N. Matsumoto, G. A. Rouleau, F. F. Hamdan.

577T   Mutations in the SHANK3 gene in Japanese autistic patients with severe delayed speech development and mental retardation. C. Waga, N. Okamoto, H. Asano, Y. Goto, S. Uchino, S. Kohsaka.

578T   Genomic methylation profile in peripheral blood DNA of autism spectrum disorder: A case-control study. A. Homs Raubert, I. Cusco, L. A. Perez-Jurado.

579T   DNA methylation landscapes of the human brain in Alzheimer’s disease. S. Iraola-Guzman, R. Rabionet, M. Montfort, F. Mancuso, G. Roma, E. Martí, I. Ferrer, X. Estivill.

580T   Association analysis of polymorphisms in DNA methyltransferase genes with schizophrenia in a South Indian population. K. R. Sarada Lekshmi, N. V. Neetha, B. Shabeesh, N. Chandrasekharan, M. A. Priya, K. R. Indu, M. Banerjee.

581T   Gene and miRNA transcriptional profiling of cognitive endophenotypes in schizophrenia pedigrees. M. A. Carless, J. Neary, M. Zlojutro, R. C. Gur, M. F. Pogue-Geile, K. Prasad, J. Blangero, V. L. Nimgaonkar, R. E. Gur, L. Almasy.

582T   MicroRNA expression profile in mesial temporal sclerosis provides insight into underlying mechanisms. D. B. Dogini, C. S. Rocha, C. Yassuda, H. Tedeschi, E. Oliveira, C. V. Maurer-Morelli, F. Cendes, I. Lopes-Cendes.

583T   Transcriptional and posttranscriptional regulation of SPG4, encoding Spastin, the most frequently mutated gene in hereditary spastic paraplegia. B. J. Henson, W. Zhu, K. Hardaway, J. L. Rupert, M. Stefan, K. M. Albers, R. D. Nicholls.

584T   miRNAs and polyamine gene expression in the brains of suicide completers. J. P. Lopez, L. M. Fiori, V. Yerko, G. Turecki.

585T   Identification of miRNAs associated with mood disorders using next-generation sequencing. J. L. Neary, D. C. Glahn, M. Zlojutro, T. D. Dyer, J. E. Curran, L. Almasy, R. Duggirala, J. Blangero, M. A. Carless.

586T   Identification of miRNAs and target mRNAs with deregulated expression in schizophrenia and bipolar brains. B. Sadikovic, R. Pearson, L. Meng, A. Beaudet.

587T   Differential analysis of microRNAs expression profile between PBMCs from primary progressive and relapsing remitting multiple sclerosis patients for the identification of novel targets. M. Sorosina, P. Brambilla, C. Fenoglio, G. Giacalone, D. Scalabrini, F. Esposito, M. Serpente, C. Cantoni, E. Venturelli, M. Rodegher, L. Moiola, B. Colombo, M. De Riz, V. Martinelli, E. Scarpini, G. Comi, D. Galimberti, F. Martinelli Boneschi.

588T   Mitochondrial genetics: Identification of variants in subjects with mood disorders and schizophrenia. F. Mamdani, P. A. Sequeira, M. V. Martin, B. Rollins, E. A. Moon, W. E. Bunney, F. Macciardi, C. Magnan, M. van Oven, P. Baldi, M. P. Vawter.

589T   Regulators of expression of heroin-dependence candidate genes and their association with gene networks involved in mouse opioid-induced behavioral changes. R. F. Clark, E. O. Johnson.

590T   Access to genetically engineered mouse models. S. Rockwood, C. Lutz, M. Sasner, L. Donahue.

591T   Evaluating genetic markers and neurobiochemical analytes for antidepressant response using a panel of inbred mouse strains. T. Wiltshire, C. Santos, B. H. Miller, S. Skewerer, J. S. Marron, O. Suzuki, M. Pletcher.

592T   Pre-diagnostic parent experiences in Duchenne and Becker muscular dystrophies, congenital muscular dystrophies, and spinal muscular atrophies: A survey of the National Task Force for the Early Identification of Childhood Neuromuscular Disorders. H. Peay, K. Mathews, National Task Force for the Early Identification of Childhood Neuromuscular Disorders.

593T   Molecular analysis of FA2H gene mutations in patients with spastic paraplegia and thin corpus callosum. D. Di Bella, E. Sarto, M. Plumari, S. Caldarazzo, B. Castellotti, M. Panzeri, A. Erbetta, L. Nanetti, C. Mariotti, F. Taroni.

594T   Analyses of compound heterozygous rearrangements of parkin. M. Funayama, H. Kusaka, H. Yoshino, Y. Li, K. Ogaki, H. Tomiyama, N. Hattori.

595T   LRRK2 haplotype-sharing analysis in patients with familial Parkinson’s disease reveals a novel mutation located in the COR domain. O. Lorenzo-Betancor, L. Samaranch, M. Ezquerra, E. Tolosa, E. Lorenzo, J. Irigoyen, C. Gaig, M. A. Pastor, A. I. Soto-Ortolaza, O. A. Ross, M. C. Rodriguez-Oroz, F. Vallderiola, M. J. Martí, M. R. Luquin, J. Perez-Tur, J. A. Obeso, P. Pastor.

596T   Identification of schizophrenia-associated NPAS3 and COMT exonic variants in a pre-onset aged population. L. Luoma, G. Macintyre, D. LaFreniere, A. Beierbach, F. Berry, S. Purdon, P. Tibbo, D. W. Cox.

597T   Clinicogenetic study of patients with FTDP-17 (MAPT) in Japan. K. Ogaki, Y. Li, M. Takanashi, K. Ishikawa, T. Kobayashi, A. Nakanishi, T. Nonaka, M. Hasegawa, M. Kishi, H. Yoshino, M. Funayama, K. Shioya, M. Yokochi, R. Sasaki, Y. Kokubo, S. Kuzuhara, Y. Motoi, H. Tomiyama, N. Hattori.

598T   To identify, validate and characterize the gene on 18p which is responsible for causing myoclonus-dystonia. M. Vanstone, T. Read, F. Han, D. A. Grimes, D. Bulman.

599T   Genetic analyses of myotonic dystrophy in Malaysia. M. K. Thong, I. Taufik, K. Ambrose, L. H. Lian, A. A. Azlina, K. J. Goh, K. T. Wong.

600T   Prader-Willi syndrome due familial paternal 224 Kb interstitial deletion upstream to SNORD108A. M. Albalwi, I. Al Abdulkareem, B. Almuzaini, M. Almoalami, N. Alatawi, W. Eyaid, M. Aljumah.

601T   Custom capture in a large primary lateral sclerosis family. V. Belzil, S. Girard, H. Daoud, M. Sabbagh, C. André-Guimont, D. Spiegelman, P. Valdmanis, J. St-Onge, I. Bachand, P. Provencher, N. Dupre, P. Dion, G. Rouleau.

602T   Analysis of lysosomal storage disorder genes in Lewy body disorders. L. Clark, N. Park, M. Verbistky, A. Brown, J.-P. Vonsattel, K. Marder, L. Honig, J. Lee.

603T   Clinical features of four familial cortico-basal degeneration and progressive supranuclear palsy in south Fukuoka prefecture, Kyushu island in Japan. H. Furuya, A. Watanabe, H. Arahata, Y. Kawano, E. Araki, H. Kumazoe, N. Fujii.

604T   Novel microRNA and novel predicted gene targets in sporadic form of Creutzfeldt-Jakob disease. D. Glavač, E. Bostjančič, M. Ravnik-Glavač, M. Popovič.

605T   Mitochondrial morpho-functional dysfunction in SPG31 patients. C. Goizet, G. Benard, C. Depienne, A. Boukhris, G. Solé, E. Mundwiller, I. Coupry, J. Pilliod, M.-L. Martin-Négrier, E. Fedirko, S. Forlani, C. Cazeneuve, D. Hannequin, P. Charles, E. Leguern, A. Durr, A. Brice, D. Lacombe, R. Rossignol, G. Stevanin.

606T   Exome sequencing reveals mutations in VPS35, encoding a subunit of the retromer complex, as cause for Parkinson's disease. E. Graf, A. Zimprich, A. Benet-Pagčs, W. Struhal, S. H. Eck, M. N. Offman, D. Haubenberger, S. Spielberger, E. C. Schulte, P. Lichtner, S. C. Rossle, N. Klopp, E. Wolf, W. Pirker, S. Presslauer, R. Katzenschlager, T. Foki, E. Reinthaler, R. Kralovics, A. Peters, F. Zimprich, T. Brücke, W. Poewe, E. Auff, C. Trenkwalder, B. Rost, G. Ransmayr, J. Winkelmann, T. Meitinger, T. M. Strom.

607T   Development of high-throughput targeted resequencing array for the diagnosis of hereditary neuropathies. O. Jarinova, J. Warman, C. Goldsmith, N. Carson, E. McCready, G. Yoon, S. Baker, A. M. Innes, K. Boycott.

608T   Rare genetic variants in APP, PSEN1, PSEN2, GRN, APOE and MAPT are associated with familial and sporadic early- and late-onset Alzheimer’s disease. S. Jin, S. Cervantes, B. Benitez, P. Pastor, A. Goate, C. Cruchaga.

609T   A Japanese hereditary spastic paraplegia patient with BSCL2 gene mutation. M. Kohda, K. Itokawa, T. Hirata, N. Araki, Y. Okazaki.

610T   Evaluation of Parkinson disease risk variants as expression-QTLs. J. C. Latourelle, A. Dumitriu, T. C. Hadzi, T. G. Beach, R. H. Myers.


Statistical Genetics and Genetic Epidemiology

 

611T   Comparison of pathway analysis approaches using lung cancer GWAS data sets. G. Fehringer, G. Liu, L. Briollais, P. Brennan, C. I. Amos, M. R. Spitz, H. Bickeböller, H.-E. Wichmann, A. Risch, R. J. Hung.

612T   Identification of genetic factors that mediate inter-individual differences in the gut microbiome. J. K. Goodrich, J. Bell, T. Spector, A. G. Clark, R. E. Ley.

613T   The Kaiser Permanente/UCSF genetic epidemiology research study on adult health and aging: High imputation coverage of low frequency variants using dense genotyping arrays. T. J. Hoffmann, M. N. Kvale, Y. Zhan, S. Hesselson, P. Kwok, C. Schaefer, N. Risch.

614T   A meta-analysis of 16 genome-wide association studies identifies genetic variation in the LEP gene to be associated with blood leptin levels independent of body mass index. T. O. Kilpeläinen, Q. Sun, Z. Kutalik, K. Kristiansson, M. Mangino, M. Su, F. Del Greco M., D. Pasko, T. Tanaka, Y. J. Sung, O. T. Raitakari, L. Perusse, C. Ohlsson, M. Walker, S. M. Willems, R. H. Myers, J. Eriksson, V. Salomaa, H. Grallert, R. J. F. Loos for the Leptin GWAS Consortium.

615T   Replication of GWAS signals and association of novel functional variants for serum uric acid and total serum bilirubin levels in an Irish population. Y. Kim, C. D. Cropp, A. M. Molloy, J. L. Mills, P. N. Kirke, J. M. Scott, L. C. Brody, J. E. Bailey-Wilson, A. F. Wilson.

616T   Exploration of pleiotropic effects of inflammation-related disease GWAS SNPs with C-reactive protein levels in the PAGE study. J. D. Kocarnik, S. A. Pendergrass, C. Carty, J. Pankow, F. Schumacher, I. Cheng, P. Durda, N. Cook, S. Liu, J. Wactawski-Wende, A. LaCroix, B. Jackson, T. Manolio, D. Crawford, M. Gross, U. Peters on behalf of PAGE Consortium.

617T   Two-stage multi-locus association analysis: Collapsing variants with the adjustment for effect directions. C. Kuo, D. Zaykin.

618T   Optimal test for rare variant effects in sequencing association studies. S. Lee, M. Wu, X. Lin.

619T   HLA-DRB1 gene and type 1 diabetes: Meta-analysis. Y. Lee, C. Huang, W. Ting, F. Lo, T. Chang.

620T   The role of cis-acting genetic modifiers in phenotypic variability of familial amyloid polyneuropathy ATTRV30M. C. Lemos, T. Coelho, J. L. Neto, J. Pinto-Basto, J. Sequeiros, I. Alonso, A. Sousa.

621T   Differential call rates in genotype imputation and their effect on genetic association studies. N. Liu, B. Zhang.

622T   A nonparametric approach to population-based association tests. S. M. Lutz, W. Yip, J. Hokanson, N. Laird, C. Lange.

623T   Comparing the statistical power of joint and meta-analysis association testing with rare variants. C. Ma, M. Boehnke, L. J. Scott.

624T   Genome-wide association analysis of rare variants with Crohn’s disease. R. Magi, A. P. Morris.

625T   Transferability of European fasting glucose quantitative trait loci to African American populations: The Candidate Gene Association Resource (CARe). J. B. Meigs, C. T. Liu, J. Dupuis, A. Adeyemo, S. Bielinski, I. Borecki, B. Cade, Y. I. Chen, M. Fornage, M. O. Goodarzi, S. F. A. Grant, X. Guo, T. Harris, L. Kao, E. Kabagambe, J. R. Kizer, Y. Liu, J. Nettleton, M. Ng, J. Pankow, S. Patel, E. Ramos, L. Rasmussen-Torvik, S. S. Rich, C. Rotimi, D. Siscovick, J. Zmuda, J. C. Florez, J. G. Wilson, D. W. Bowden.

626T   The lipid-associated rs4846914 GALNT2 gene variant confers a highly elevated risk for type 2 diabetes. B. Melegh, P. Kisfali, A. Maasz, E. Baricza, B. Duga, M. Mohas, I. Wittmann, N. Polgar.

627T   Coexpression network analysis in abdominal and gluteal adipose tissue reveals regulatory genetic loci for metabolic syndrome and related phenotypes. J. L. Min, G. Nicholson, I. Halgrimsdottir, K. Almstrup, A. Petri, P. Keller, A. Barrett, M. Travers, N. W. Rayner, R. Mägi, F. H. Pettersson, J. Broxholme, M. J. Neville, Q. F. Wills, J. Cheeseman, M. Allen, C. C. Holmes, T. D. Spector, J. Fleckner, M. I. McCarthy, F. Karpe, C. M. Lindgren, K. T. Zondervan, GIANT Consortium, MolPAGE Consortium.

628T   Pleiotropic relationships among measures of body composition in Afro-Caribbeans from Tobago. R. L. Minster, A. L. Kuipers, C. M. Kammerer, A. L. Patrick, V. W. Wheeler, J. M. Zmuda.

629T   Association tests for rare and common variants: An approach based on genotypic and phenotypic measures of similarity between individuals. I. Mukhopadhyay, J. Zhao, A. Thalamuthu.

630T   The effect of plasma fibrinogen on the risk of venous thromboembolism among African American and White women using oral contraceptives. C. S. Neal, F. D. Mili, W. C. Hooper, C. Lally, H. Austin.

631T   Improving discrimination of true associations from tracking associations: A test using simulated disease data structured by real genomic data. G. Nelson, P. An, C. A. Winkler.

632T   Japanese population structure estimated from the Japanese Multi-institutional Collaborative Cohort data. T. Nishiyama, N. Hamajima, S. Suzuki, H. Kishino, Japan Multi-institutional Collaborative Cohort.

633T   Cross-sectional gender-stratified blood pressure analyses in children: Results from a genome-wide association study. P. G. Parmar, H. R. Taal, V. Aalto, E. Thiering, N. J. Timpson, M. Bustamante, N. G. Martin, G. Verwoert, T. Lehtimäki, A. G. Uitterlinden, L. Briollais, C. Stoltenberg, C. Power, J. P. Newnham, D. I. Boomsma, J. Viikari, M. W. Gillman, H. N. Lyon, J. J. Hottenga, A. Hofman, M. Kähönen, M. J. Tobin, O. Raitakari, V. W. V. Jaddoe, M.-R. Jarvelin, L. J. Beilin, J. Heinrich, C. M. van Duijn, C. E. Pennell, L. J. Palmer, EArly Genetics and Lifecourse Epidemiology and CHARGE Consortiums.

634T   Meta-analysis of genome-wide association studies on atopic dermatitis identifies three novel risk loci. L. Paternoster, M. Standl, C.-M. Chen, A. Ramasamy, K. Břnnelykke, L. Duijts, M.-R. Jarvelin, M. A. Ferreira, Australian Asthma Genetics Consortium, H.-E. Wichmann, D. Strachan, J. P. Thyssen, E. A. Nohr, D. L. Jarvis, B. Feenstra, P. Sleiman, D. Glass, L. J. Palmer, N. M. Probst-Hensch, B. Jacobsson, J. A. Curtin, D. I. Boomsma, G. H. Koppelman, A. Sääf, H. Bisgaard, J. Heinrich, D. M. Evans, S. Weidinger on behalf of EAGLE Eczema Consortium.

635T   Segregation analysis of isolated cleft lip in a high-prevalence cluster of South America: Uncommon high-risk allele and implications for genetic association studies. F. A. Poletta, E. E. Castilla, I. M. Orioli, J. C. Mereb, F. M. Carvalho, C. A. Brandon, J. M. Resick, A. R. Vieira, M. L. Marazita, J. S. Lopez-Camelo.

636T   Classification of anthropometric validated associations from GIANT using effects on childhood growth. R. M. Salem, J. N. Hirschhorn, Early Growth Genetics Consortium.

637T   Imprinting and maternal genotype effects of 4q35 genetic variants on combined asthma-plus-rhinitis phenotype. C. Sarnowski, G. Malerba, C. Laprise, K. Rohde, M. Moffatt, P. Jeannin, M.-H. Dizier, P. F. Pignatti, W. O. C. Cookson, M. Lathrop, F. Demenais, E. Bouzigon.

638T   The Kaiser Permanente Research Program on Genes, Environment and Health: A resource for genetic epidemiology research linking electronic health and environmental risk data to genomics data in a large cohort based in a health plan. C. Schaefer, S. Rowell, L. Walter, C. Somkin, S. Van DenEeden, C. Quesenberry, L. Croen, L. Kushi, R. Whitmer, C. Iribarren, M. Henderson, D. Smethurst, M. Sadler, D. Ranatunga, L. Shen, S. Sciortino, D. Ludwig, D. Olberg, K. Lapham, J. Lin, S. Miles, S. Hesselson, T. Hoffman, M. Kvale, E. Blackburn, P. Kwok, N. Risch.

639T   Rare variants in ANKRD31 and CXADR are associated with blood pressure in African Americans. P. B. Shetty, H. Tang, T. Bamidele, A. C. Morrison, C. L. Hanis, D. C. Rao, R. S. Cooper, N. Risch, X. Zhu.

640T   Gene-based tests that account for covariates and pedigree: The GLOGS / ACR pipeline for GWAS of complex traits. S. Stanhope, M. Abney.

641T   Clinical and epidemiological analyses of nonsyndromic craniosynostosis. C. G. Stevens, G. Yagnik, L. Qi, E. Cherkez, P. A. Sanchez-Lara, V. Kimonis, J. Stoler, M. Cunningham, J. M. Graham, S. A. Boyd.

642T   Descriptive analysis of skeletal dysplasias in the Utah population. D. Stevenson, J. C. Carey, J. L. B. Byrne, S. Srisukhumbowornchai, M. L. Feldkamp.

643T   Association testing for rare variants via pooled design. I. Tachmazidou, M. De Iorio, M. Falchi.

644T   Additive polygenic effects on longevity and their functional meaning. S. V. Ukraintseva, D. Wu, K. G. Arbeev, A. I. Yashin.

645T   Association of a TOMM40 variable-length polymorphism with risk and age at onset of Alzheimer disease is notiIndependent of APOE. B. N. Vardarajan, G. Jun, J. Buros, L. Cantwell, K. L. Lunetta, T. Foroud, R. Mayuex, J. Haines, M. A. Pericak-Vance, G. Schellenberg, L. A. Farrer, Alzheimer's Disease Genetics Consortium.

646T   Review and re-analysis of all schizophrenia multiplex families in the NIMH repository substantially alters overall linkage findings. K. A. Walters, K. Tobin, M. Azaro, T. Lehner, L. M. Brzustowicz, V. J. Vieland.

647T   Study design and power considerations for exome sequencing of near-Mendelian traits. M. E. Weale, M. A. Simpson, R. C. Trembath.

648T   Manifold learning and causal inference in genome-wide integrated genetic and epigenetic analysis. M. Xiong, Y. Zhu.

649T   Simultaneous association testing of genome-wide genes using sequence data. H. Xu.

650T   Do endothelial NOS haplotypes influence neonatal respiratory distress in premature infants? K. Yanamandra, S. A. Ursin, H. Chen, J. A. Bocchini, Jr., R. Dhanireddy.

651T   A Genome-wide association study of Cloninger’s Temperament and Character Inventory: Do genetic variants influence personality? S. Yang, M. Lee, D. H. Lee, J. H. Kim, H. L. Kim, H. N. Kim, Y. M. Song, K. Lee, J. Sung.

652T   GWAS for childhood tooth decay implicates novel genes for pit and fissure and smooth surfaces. Z. Zeng, J. R. Shaffer, X. Wang, M. Lee, K. T. Cuenco, M. M. Barmada, D. E. Polk, R. J. Weyant, R. Crout, D. W. McNeil, D. E. Weeks, E. Feingold, M. L. Marazita.

653T   Candidate pathway-based analysis for cleft lip with or without cleft palate. T. Zhang, I. Rucinski, T. H. Beaty, International Cleft Consortium.

654T   A combined principal components analysis and propensity score approach for population stratification adjustment in genome-wide association. H. Zhao, N. Mitra, T. Rebbeck.

655T   Genetic architecture of biochemical markers for disease. B. Benyamin, R. P. Middelberg, G. W. Montgomery, P. M. Visscher, N. G. Martin, J. B. Whitfield.

656T   Genetic associations with the variation in aging from the SardiNIA/Progenia project. J. Bragg-Gresham, S. Sanna, S. Kardia, G. Abecasis, M. Uda, C. Sidore, F. Cucca, A. Cao, A. Mulas, F. Busonero, F. Reinier, R. Berutti, A. Maschio, M. Urru, M. Marcelli, R. Cusano, M. Oppo, M. Pitzalis, M. Zoledziewska, A. Angus, C. Jones, D. Schlessinger.

657T   Meta-analysis of 15 genome-wide association studies with ~8,000 cases and ~50,000 controls identified multiple novel loci associated with age-related macular degeneration. W. Chen, L. G. Fritsche, Y. Yu, M. Schu, B. L. Yaspan, AMDGene Consortium.

658T   A novel analysis method based on gene-gene interactions in pathways defined by protein-protein interaction networks. R. H. Chung, W. K. Scott, J. M. Vance, E. R. Martin.

659T   Use of posterior probability of linkage in weighted false discovery rate analysis of cleft lip with or without cleft palate (CL/P) families. M. Govil, N. Mukhopadhyay, T. H. McHenry, T. H. Beaty, J. C. Murray, M. L. Marazita.

660T   Detecting genetic association with rare variants in admixed populations. X. Mao, Y. Li, M. Li.

661T   Mapping genes for longitudinal data phenotypes: A study of type I error and power. A. Musolf, D. Londono, K. Chen, R. Wang, T. Shen, J. Brandon, J. A. Herring, C. A. Wise, H. Zong, M. Jin, L. Yu, S. J. Finch, T. Matise, D. Gordon.

662T   Genome-wide linkage and association analyses reveal quantitative trait loci that influence thyroid-related hormones. J. Singh, L. Yerges-Armstrong, J. R. Shaffer, J. Curran, M. Carless, S. Cole, J. Kent, T. Dyer, L. Almasy, M. Mahaney, J. Blangero, C. M. Kammerer, P. B. Samollow.

663T   Population stratification in burden tests for rare variant associations. M. Zawistowski, D. Wegmann, M. G. Ehm, M. R. Nelson, J. Novembre, S. Zöllner.

664T   A genome scan for vesicoureteric reflux reveals a new recessive locus on chromosome 10 with an HLOD score of >6. J. M. Darlow, M. G. Dobson, M. Hunziker, C. M. Molony, P. Puri, D. E. Barton.

665T   The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aaging: Efficient and accurate genome-wide genotyping of 100,000 subjects using the Affymetrix Axiom genotyping system. S. Hesselson, M. Kvale, Y. Cao, J. Eshragh, R. Lao, G. Mathauda, T. Shenoy, E. Wan, S. Wong, M. Patil, D. Chan, M. Mittmann, M. Purdy, J. Gollub, T. Webster, S. Miles, S. Rowell, L. Walter, W. McGuire, S. Connell, C. Zau, D. Ranatunga, L. Shen, D. Smethurst, A. Finn, C. Schaefer, N. Risch, P.-Y. Kwok.

666T   Efficient capture of allele frequency spectra in sequencing studies by selection of independent chromosomes. T. Edwards, C. Li.

667T   Whole-genome sequencing of six canine disease models. F. H. G. Farias, G. S. Johnson, T. Mhlanga-Mutangadura, R. Zeng, J. F. Taylor, D. P. O’Brien, R. D. Schnabel.

668T   Detecting sample contamination using array-based genotype data. M. Flickinger, G. Jun, K. F. Doheny, J. Romm, K. N. Hetrick, G. R. Abecasis, M. Boehnke, H. M. Kang.

669T   Design of DNA pooling to allow incorporation of covariates in rare variants analysis. W. Guan, C. Li.

670T   Genotype calling from next-generation sequencing data in pedigrees. S. C. Heath, E. Raineri.

671T   Single nucleotide polymorphisms in the promoter of tumor necrosis factor—α gene in Korean retired workers exposed to inorganic dusts. J. Hwang, K. Lee, J. Shin, J. Lee, B. Choi.

672T   Finding genes in Mendelian disorders using sequence data: Methods and applications. I. Ionita-Laza, V. Makarov, J. D. Buxbaum, D. L. Nicolae, X. Lin.

673T   A powerful and efficient two-stage design for next-generation sequencing data analysis using extreme phenotype sequencing. G. Kang, D. Lin, M. Li, J. Chen.

674T   The empirical power of rare variant association methods: Results from Sanger sequencing in 1,998 individuals. M. Ladouceur, Z. Dastani, Y. S. Aulchenko, M. T. Greenwood, J. B. Richards.

675T   Quality assurance of variant calling (SNV and Indels) using next-generation sequencing data. H. Ling, H. Hetrick, E. Pugh, J. Romm, B. Craig, B. Marosy, K. Doheny.

676T   Smoothed functional principal component analysis for next-generation association studies. L. Luo, Y. Zhu, H. Kang, C. Stidley, E. Boerwinkle, M. Xiong.

677T   Genome-wide DNA methylation analysis for osteoporosis risk. C. Qiu, H. Shen, J. Li, H. W. Deng.

678T   Study design considerations to improve power in association tests for rare variants. I. Ruczinski, R. Mathias.

679T   Detection of identity by descent using next-generation sequencing data. S. Su, E. Jorgenson.

680T   Genome-wide association study of African Americans implicates multiple lung and inflammatory disease-associated loci in sarcoidosis susceptibility. I. Adrianto, C. P. Lin, J. J. Hale, A. M. Levin, I. Datta, R. Parker, A. Adler, J. A. Kelly, K. M. Kaufman, C. J. Lessard, K. L. Moser, M. C. Iannuzzi, B. A. Rybicki, C. G. Montgomery.

681T   Fine-scale association mapping of the xMHC-region in celiac disease cases and controls. R. S. Ahn, A. Adamson, X. Deng, H. Gao, C. Garner, S. Neuhausen.

682T   Common variants identified by meta-analysis of 110,238 individuals associate with serum urate concentrations. E. Albrecht, A. Köttgen, A. Teumer, G. Pistis, V. Vitart, C. Hundertmark, D. Ruggiero, T. Tanaka, Q. Yang, T. Haller, J. C. Chambers, A. Tin, W. H. Kao, C. S. Fox, C. Gieger, CARe Consortium, Global Urate Genetics Consortium.

683T   Performance of different balancing score methods in case-control genetic association studies. A. Barhdadi, M.-P. Dubé.

684T   Replication and novel suggestive associations in meta-analyses of lipid traits in Mexican and Mexican American cohorts from Mexico City and Starr County, Texas, as well as tissue specific enrichment of expression quantitative trait loci among top signals. J. E. Below, E. J. Parra, E. R. Gamazon, J. Escobedo, A. Valladares, J. Garcia-Mena, P. M. McKeigue, J. Kumate, C. Liu, D. M. Hallman, D. L. Nicolae, G. I. Bell, N. J. Cox, C. L. Hannis, M. Cruz.

685T   Genome-wide association study identifies several regions associated with malignant mesothelioma susceptibility. G. Cadby, S. Mukherjee, A. Reid, M. Garlepp, B. W. S. Robinson, N. de Klerk, A. W. Musk, L. J. Palmer.

686T   Integrated analysis of variants and pathways for genome-wide association studies. P. Carbonetto, M. Stephens.

687T   Identification of genetic variants related to hepatitis B virus infection in hepatocellular carcinoma families and chronic liver diseases in Han Chinese. S. Chang, C. Hsu, A. Hsieh, C. Fann, D. Tai.

688T   Population analysis of asthma genome-wide association data using GenAMap. R. E. Curtis, S. Wenzel, D. A. Myers, E. Bleecker, E. P. Xing.

689T   A novel variant in the MCF2L gene is associated with osteoarthritis. A. G. Day-Williams on behalf of arcOGEN Consortium and Replication Data Sets.

690T   Genetic loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. K. Ding, K. Shameer, H. Jouni, D. R. Masys, G. P. Jarvik, A. N. Kho, M. D. Ritchie, C. A. McCarty, I. J. Kullo.

691T   Strategy for genotype imputation in Hispanic-Americans in the Women’s Health Initiative SNP Health Association Resource. J. Divers, W. M. Brown, L. Yang, A. P. Reiner, T. A. Thornton, Y. Li, H. Tang, M. Z. Vitolins, B. M. Snively.

692T   Improving the power of genome-wide association scans through two-step approaches using external summary data. F. Dudbridge, J. M. Wason.

693T   Bayesian hierarchical modeling of SNPs and pathways for identifying associated pathways. M. Evangelou, F. Dudbridge, L. Wernisch.

694T   Genome-wide association scans for ocular axial length of East Asian populations in Singapore. Q. Fan, X. Zhou, C. Y. Cheng, L. K. Goh, V. A. Barathi, C. C. Khor, M. K. Ikram, W. T. Tay, X. L. Sim, K. S. Sim, R. T. Ong, K. S. Chia, J. J. Liu, E. Vithana, E. S. Tai, T. Aung, T. Y. Wong, Y. Y. Teo, S. M. Saw.

695T   An empirical approach for inferring polygenic contributions in genome-wide case-control studies. S. Feng, A. Mulas, R. Nagaraja, C. Sidore, M. Uda, S. Sanna, F. Cucca, D. Schlessinger, G. R. Abecasis, H. M. Kang.

696T   Assessing the causes of heterogeneity in GWAS by combining various eQTL analyses. T. Flutre, X. Wen, M. Stephens.

697T   eHF-algorithm: A fast and scalable method for hidden factor analysis in eQTL studies. C. Gao, J. G. Mezey.

698T   Genotype imputation accuracy for Mexican Americans using the HapMap Phase 3 reference panels. X. Gao, P. Marjoram, R. Mckean-Cowdin, M. Torres, W. J. Gauderman, R. Varma.

699T   Genome-wide association study identifies four loci associated with eruption of permanent teeth. F. Geller, B. Feenstra, H. Zhang, J. R. Shaffer, T. Hansen, H. A. Boyd, E. A. Nohr, N. J. Timpson, D. M. Evans, R. J. Weyant, S. M. Levy, M. Lathrop, G. Davey Smith, J. C. Murray, T. Werge, M. L. Marazita, T. I. A. Sorensen, M. Melbye.

700T   Genome-IBDLD: Estimating pairwise relatedness and individual inbreeding coefficients and discovery of identity by descent. L. Han, M. Abney.

701T   Use of diverse electronic medical record systems for a genome-wide association study of type 2 diabetes in European- and African-ancestry populations. M. G. Hayes, A. Kho, L. L. Armstrong, M. D. Ritchie, J. A. Pacheco, L. Rasmussen-Torvik, E. M. Just, J. Denny, D. C. Crawford, P. Peissig, L. V. Rasmussen, W. Wei, M. de Andrade, I. J. Kullo, D. R. Crosslin, D. Mirel, A. Crenshaw, K. F. Doheny, E. Pugh, W. A. Wolf, W. L. Lowe, D. M. Roden, R. L. Chisholm.

702T   FaST linear mixed models for genome-wide association studies. D. Heckerman, C. Lippert, Y. Liu, C. Kadie, R. Davidson, J. Listgarten.

703T   Genetics of obesity in Mexican Americans in Starr County, Texas. H. M. Highland, J. E. Below, E. R. Gamazon, G. I. Bell, N. J. Cox, C. L. Hanis.

704T   The PhenX Toolkit: Facilitating cross-study analysis in genomic studies. W. Huggins, H. Pan, K. A. Tryka, M. J. Phillips, N. Whitehead, V. Bakalov, J. Levy, Y. Qin, M. Zmuda, D. Jackman, D. Nettles, J. Pratt, J. A. Hammond, T. Hendershot, D. Maiese, W. R. Harlan, J. Haines, H. Junkins, E. Ramos, L. C. Strader, C. M. Hamilton.

705T   MethLAB — A GUI analysis package for array-based DNA methylation data. V. Kilaru, R. T. Barfield, J. W. Schroeder, A. K. Smith, K. N. Conneely.

706T   No evidence for common genetic basis for clustering of metabolic syndrome traits. K. Kristiansson, M. Perola, E. Tikkanen, J. Kettunen, I. Surakka, A. S. Havulinna, A. Stančáková, C. Barnes, E. Kajantie, J. G. Eriksson, J. Viikari, T. Lehtimäki, O. T. Raitakari, A.-L. Hartikainen, A. Pouta, A. Jula, A. J. Kangas, P. Soininen, M. Ala-Korpela, S. Männistö, P. Jousilahti, L. L. Bonnycastle, M.-R. Järvelin, F. S. Collins, M. Laakso, M. E. Hurles, A. Palotie, L. Peltonen, S. Ripatti, V. Salomaa.

707T   Genome-wide association studies using Bayesian classification with singular value decomposition identify that nine of the known Crohn's disease susceptibility loci are associated with disease prognosis and the need for surgery. S. Kwon, D. McGovern, M. Dubinsky, T. Haritunians, S. Targan, K. Taylor, P. Fleshner, A. Ippoliti, J. Rotter, X. Guo.

708T   Identification of gene networks for caries of pit and fissure versus smooth tooth surfaces through GWAS and protein network integration. M. Lee, K. T. Cuenco, Z. Zhen, J. R. Shaffer, X. Wang, M. M. Barmada, R. J. Weyant, R. J. Crout, D. W. McNeil, D. E. Weeks, E. Feingold, M. L. Marazita.

709T   Estimating the magnitude and influence of genetic marker errors by comparing conventional WTCCC guideline and further quality control using family and twin relationship. D. H. Lee, M. K. Lee, Y. M. Song, K. Lee, J. Sung.

710T   An evaluation of the accuracy of 1000 Genomes-based imputation. M. Lemire, J. Rangrej, V. Peltekova.

711T   Rapid optimization of genotype imputation using parallelization. J. L. Levy, D. B. Hancock, G. P. Page, E. O. Johnson.

712T   Meta-analysis of genome-wide association studies identifies additional susceptibility loci for psoriasis. Y. Li, S. L. Spain, J. Knight, P. E. Stuart, E. Ellinghaus, H. M. Kang, W. Chen, T. Tejasvi, J. Barker, G. R. Abecasis, J. T. Elder, R. P. Nair, A. Franke, R. Trembath.

713T   Identification of 6 novel susceptibility loci for androgenetic alopecia and their association with common disease: A genome-wide association study. R. Li, F. Brockschmidt, A. Kiefer, H. Stefansson, D. R. Nyholt, K. Song, S. H. Vermeulen, S. Kanoni, D. Glass, D. Waterworth, F. Geller, S. Hanneken, S. Moebus, C. Herold, G. W. Montgomery, P. Deloukas, N. Eriksson, A. C. Heath, T. Becker, M. Mangino, P. Vollenweider, T. D. Spector, G. Dedoussis, N. G. Martin, L. A. Kiemeney, V. Mooser, K. Stefansson, D. A. Hinds, M. M. Nöthen, J. B. Richards.

714T   The impact of genomic coverage on the power to detect additional variants with genome-wide association studies. K. J. Lindquist, E. Jorgenson, T. J. Hoffmann, J. S. Witte.

715T   Association analyses of 198,846 individuals identifies 11 new loci associated with body mass index. A. E. Locke, S. Vedantam, S. Berndt, F. Day, S. Gustafsson, D. C. Croteau-Chonka, D. Shungin, A. Scherag, E. Wheeler, C. Willer, I. Barroso, K. E. North, M. I. McCarthy, C. M. Lindgren, E. Ingelsson, K. L. Mohlke, R. J. F. Loos, E. K. Speliotes, J. Hirschhorn, Genetic Investigation of Anthropometric Traits Consortium.

716T   Identification of novel associations using genome-wide penalized regression for height, white blood cell count, and platelet count in African Americans within the Women's Health Initiative. B. A. Logsdon, C. L. Carty, A. P. Reiner, J. Y. Dai, C. Kooperberg.

717T   Leveraging resources in biobanks from the eMERGE Network: A genome-wide association study of thyroid stimulating hormone levels in European Americans and African Americans. J. R. Malinowski, J. C. Denny, S. J. Bielinski, M. A. Basford, Y. Bradford, H. S. Chai, P. L. Peissig, D. Carrell, J. Pathak, R. A. Wilke, L. Rasmussen, X. Wang, J. A. Pacheco, A. Kho, N. Weston, M. Matsumoto, K. M. Newton, R. Li, I. J. Kullo, C. G. Chute, R. L. Chisholm, E. B. Larson, C. A. McCarty, D. R. Masys, D. M. Roden, M. de Andrade, M. D. Ritchie, D. C. Crawford on behalf of eMERGE Network.

718T   Genome-wide analysis uncovers putative associations for diabetic retinopathy in individuals identified from biobanks linked to electronic medical records. C. A. McCarty, R. Goodloe, G. Pesicka, L. Rasmussen, J. C. Denny, C. Blanquicett, C. Waudby, M. A. Brantley, M. D. Ritchie.

719T   Variants mapping to the WNT16 locus are strongly associated with total body mineralization in children of different ethnic background and with total body BMD of elderly adults. C. Medina- Gomez, J. P. Kemp, K. Estrada, D. Heppe, L. Herrera, L. Oei, A. Hofman, V. W. Jaddoe, P. H. C. Eilers, D. M. Evans, A. G. Uitterlinden, J. H. Tobias, F. Rivadeneira.

720T   Novel FDR approach identifies genes predictive of breast cancer survival. J. Millstein, D. Volfson, E. E. Schadt, J. Bergh.

721T   Searching for genetic interactions in a genome-wide association study of psoriasis: A comparison of methods. J. E. Mollon, D. Speed, K. K. Nicodemus, M. E. Weale.

722T   ROSELLA: Region Oriented Stringent Elastic-net Logistic Likelihood Analysis. K. I. Morley, L. Jostins, J. A. Morris, D. G. Clayton, J. C. Barrett, UK Inflammatory Bowel Disease Genetics Consortium.

723T   SNPs near CCNL1 associated with infant adiposity in multi-ethnic mega-analysis with strongest effect observed in European ancestry newborns. J. Morrison, D. A. Scheftner, A. Pluzhnikov, L. P. Lowe, C. Ackerman, L. Armstrong, A. R. Dyer, H. Lee, M. Urbanek, C. McHugh, D. Mirel, B. E. Metzger, M. G. Hayes, N. J. Cox, W. L. Lowe, HAPO Study Cooperative Research Group.

724T   A genome-wide association scan on the levels of inflammatory markers in Sardinia reveals associations with genes related with malaria resistance. S. Naitza, E. Porcu, P. Scheet, J. Strait, X. Xiao, D. D. Taub, M. Dei, S. Lai, A. Mulas, F. Busonero, A. Maschio, G. Usala, M. Zoledziewska, C. Sidore, M. B. Whalen, D. L. Longo, E. Lakatta, A. Cao, G. R. Abecasis, D. Schlessinger, M. Uda, S. Sanna, F. Cucca.

725T   Genome-wide linkage and family-based association analysis in musical aptitude. J. Oikkonen, L. Ukkola-Vuoti, P. Onkamo, P. Raijas, K. Karma, I. Järvelä.

726T   Largest U.K. rheumatoid arthritis genome-wide association study to date of 8,300 samples strengthens confirmed loci and highlights more potential RA genetic risk factors. G. Orozco, S. Eyre, J. Bowes, E. Flynn, A. Barton, J. Worthington.

727T   Extremely low-coverage sequencing enables cost effective GWAS. B. Pasaniuc, N. Rohland, H. Li, N. Zaitlen, P. McLaren, K. Garimella, L. Liang, P. deBakker, S. Sunyaev, N. Patterson, D. Reich, A. L. Price.

728T Unprogrammed presentation number

729T   A Bayesian association testing approach that accounts for epigenetic characteristics as well as prior molecular and pathway information. C. Rakovski.

730T   Genome-wide meta analyses of human anthropometric traits across 270,722 individuals reveal 6 new genetic associations with evidence for sexual dimorphism as well as evidence for sexual dimorphism at 8 previously reported overall genetic associations. J. C. Randall, Z. Kutalik, T. W. Winkler, S. I. Berndt, A. U. Jackson, T. O. Kilpeläinen, K. L. Monda, L. Qi, T. Workalemahu, J. Czajkowski, F. Day, T. Esko, M. F. Feitosa, R. Mägi, I. Mathieson, V. Steinthorsdottir, G. Thorleifsson, I. B. Borecki, I. M. Heid, C. M. Lindgren, R. J. F. Loos, K. E. North for GIANT Consortium.

731T   An evaluation of several statistical approaches to detect rare variants in genome-wide association data of Parkinson’s disease. M. Saad, S. Lesage, A. Brice, M. Martinez.

732T   Genome-wide association and interaction studies identify risk alleles for congenital heart defects in Down syndrome. M. R. Sailani, P. Makrythanasis, S. Deutsch, E. Migliavacca, A. J. Sharp, J. M. Delabar, L. Perez-Jurado, C. Serra-Juhe, G. Merla, S. Vicari, E. Kanavakis, R. Rabionet, X. Estivill, Y. Grattau, G. Dembour, A. Megarbane, R. Touraine.

733T   Adjusting rare variant association tests for population stratification using the stratification score. G. A. Satten, Q. Ling, M. P. Epstein, A. S. Allen.

734T   Statistics for global scanning of gene sets using genome-wide association studies. D. J. Schaid, J. P. Sinnwell, S. K. McDonnell, G. D. Jenkins.

735T   Genome-wide association study reveals genetically distinct phenotypic subtypes of age-related macular degeneration distinct. M. Schu, G. Jun, M. A. Morrison, J. Farrell, I. K. Kim, D. J. Morgan, G. S. Hageman, L. A. Farrer, M. M. DeAngelis.

736T   Quality assessment of parallelization strategy for genome-wide imputation using beagle. H. Sicotte, M. de Andrade, M. E. Matsumoto, N. Prodduturi, J. P. Kocher.

737T   Free controls and two-stage designs: An opportunity to reduce cost and increase power. A. D. Skol, S. A. Stanhope.

738T   Incorporating genetic ancestry into risk prediction models. N. Solovieff, C. Baldwin, M. Steinberg, T. Perls, P. Sebastiani.

739T   Increasing power of groupwise association test with likelihood ratio test. J. Sul, B. Han, E. Eskin.

740T   Association testing on the X-chromosome in case-control samples with related individuals. T. Thornton, M. S. McPeek.

741T   How much information is disclosed from the margins of high dimensional data? A. L. Voorman, K. M. Rice, T. Lumley.

742T   Selection of top SNPs for genome-wide association study using p values and magnitude of odds ratios. J. Wang, S. Shete.

743T   Follow-up GWAS analysis and in silico candidate gene study for dental caries in permanent teeth. X. Wang, A. R. Vieira, J. R. Shaffer, F. Begum, M. Lee, K. T. Cuenco, Z. Zheng, D. E. Polk, M. M. Barmada, J. Noel, I. Anjomshoaa, D. E. Weeks, E. Feingold, M. L. Marazita.


Epigenetics

 

744T   Genome-wide characterization of methyl-CpG-binding protein 2 (MECP2) recruitment in primary human CD4+ T cells. M. Dozmorov, T. Hughes, R. Webb, J. D. Wren, A. H. Sawalha.

745T   Genome-wide identification of new differentially methylated regions associated with imprinted genes. C. Borel, F. Cheung, A. Guilmatre, B. Steiner, H. Brunner, D. Mackay, G. Perez de Nanclares, T. Eggermann, G. Gimelli, C. Schwartz, J. Vermeesch, P. Papenhausen, C. Ruivenkamp, A. J. Sharp.

746T   Detection of epigenetic defects in Korean patients with Beckwith Wiedemann syndrome and Silver-Russell syndrome. G. H. Kim, B. H. Lee, J. J. Lee, S. H. Choi, J. Y. Lee, H. W. Yoo.

747T   The role of Ube3a-ATS in Ube3a imprinting and Angelman syndrome. L. Meng, R. Person, A. Beaudet.

748T   High resolution methylation map in suicide completers. C. Nagy, M. Suderman, C. Ernst, M. Szyf, N. Mechawar, G. Turecki.

749T   Large scale genome-wide methylation analysis of schizophrenia. K. Aberg, J. McClay, G. Rudolf, S. Nerrella, J. Bukszar, L. Xie, A. Hudson, A. Khachane, S. Vunck, S. Snider, P. Beardsley, C. Hultman, P. K. E. Magnusson, P. Sullivan, E. van den Oord.

750T   Friedreich ataxia demonstrates increased levels of 5-hydroxymethylcytosine within the FXN gene. S. Al-Mahdawi, C. Sandi, M. Pook.

751T   Genomic and epigenomic analysis of primate species-specific DNA methylation variation. C. G. Bell, G. A. Wilson, L. M. Butcher, S. Beck.

752T   Genome-wide MeDIP-sequencing profiles identify differentially methylated regions in monozygotic twins discordant for pain sensitivity. J. T. Bell, A. K. Loomis, B. Zhang, C. L. Hyde, G. J. Brock, I. D. Harrow, L. M. Butcher, R. McEwen, J. M. Harris, F. M. K. Williams, S. Beck, S. Phillips, W. Jun, G. Burgess, S. John, T. D. Spector.

753T   DNA methylation alterations in CHARGE patients with heterozygous CHD7 mutations. D. T. Butcher, D. Grafodatskaya, T. Guha, W. Reardon, B. Gilbert-Dussardier, A. Verloes, F. Bilan, S. Bowdin, R. Mendoza-Londono, R. Weksberg.

754T   Methylation profiling of testicular embryonal carcinomas. W. Y. Chan, O. M. Rennert, H. H. Cheung.

755T   DNA methylation in cerebellum of bipolar disorder, schizophrenia and depression patients. L. Cheng, C. Zhang, J. Badner, C. Chen, E. Gershon, C. Liu.

756T   Differential DNA methylation associated with anti-dsDNA autoantibody production in systemic lupus erythematosus. S. A. Chung, K. E. Taylor, H. L. Quach, L. F. Barcellos, L. A. Criswell.

757T   Effect of folic acid supplementation on DNA methylation among reproductive age women in Honduras. K. S. Crider, J. Rosenthal, D. R. Maneval, G. P. A. Kauwell, L. B. Bailey.

758T   Genomic analysis of site-specific DNA methylation patterns in primary epithelial ovarian cancers and endometrial metastases to the ovary. L. Elnitski, D. L. Kolbe, T. C. Krivak, J. A. DeLoia, L. C. Brody.

759T   Silver-Russell syndrome : Phenotypic comparison between patients with H19-DMR epimutations and those with upd(7)mat, and 3 unique cases of SRS. T. Fuke-Sato, K. Yamazawa, K. Matsubara, M. Kagami, K. Nakabayashi, K. Hata, T. Ogata.

760T   Identification of candidate epimutations in schizophrenia and autism brain samples. J. Ge, K. Mohan, J. Wiszniewska, A. Beaudet.

761T   DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: Identification of functionally important genes involved in immune response. K. Gervin, G. Gilfillan, M. D. Vigeland, M. Mattingsdal, M. Hammerř, H. Nygĺrd, A. O. Olsen, I. Brandt, J. R. Harris, D. E. Undlien, R. Lyle.

762T   Role of epigenetic dysregulation in neurodevelopmental syndromes: Lessons from KDM5C mutations. D. Grafodatskaya, B. H. Y. Chung, D. T. Butcher, S. Goodman, S. Choufani, Y. Lou, C. Zhao, R. Rajendram, F. E. Abidi, C. Skinner, J. Hamilton, S. W. Scherer, C. E. Schwartz, R. Weksberg.

763T   Whole DNA methylome profiling and correlative gene expression analysis in the temporal cortex tissue of 28 autism cases and controls. S. G. Gregory, G. Meredith, J. K. Beaver, C. Lintas, K. Garbett, K. Mirnics, J. Klizer, A. M. Persico, G. Marnellos, M. Landers.

764T   Genome-wide and allele-specific differences in DNA methylation in Mexican-American children. N. Holland, P. Yousefi, K. Harley, R. Aguilar, K. Huen, S. Venkat, L. Barcellos, B. Eskenazi.

765T   Genome-wide hypermethylation and hypomethylation in renal cell carcinoma. C. L. Hsiao, C. S. J. Fann, W. H. Weng, C. K. Chuang, B. T. Teh, S. T. Pang.

766T   Allele-specific methylation — Epigenetics, GWAS and autoimmune disease. J. N. Hutchinson, J. Fagerness, A. Gimelbrant, A. Zak, M. J. Daly, J. M. Seddon, A. Chess, R. M. Plenge.

767T   Neuronal methylome mapping in bipolar disorder and schizophrenia. K. Iwamoto, M. Bundo, J. Ueda, T. Asai, T. Miyauchi, A. Komori-Kokubo, K. Kasai, T. Kato.

768T   Genome-wide epigenetic regulation by early-life trauma. B. Labonte, M. Suderman, G. Maussion, Y. Volodymyr, I. Mahar, A. Bureau, N. Mechawar, M. Szyf, M. J. Meaney, G. Turecki.

769T   DNA methylation analysis of induced pluripotent stem cells using methyl-CpG binding domain protein captured sequencing. D. S. Lee, J. Y. Shin, Y. S. Ju, J. I. Kim, A. Nagy, J. S. Seo.

770T   The epigenetic modification of FLI1 in the colorectal cancer. S. K. Lee, J. W. Moon, J. O. Lee, J. H. Kim, G. Y. You, J. Kim, H. S. Kim, S. H. Park.

771T   Differential DNA methylation in TrkB gene in frontal cortex of suicide completers. G. Maussion, C. Ernst, J. Yang, N. Mechawar, G. Turecki.

772T   The promoter hypermethylation of ADHFE1 gene in the colorectal cancer. J. W. Moon, S. K. Lee, J. H. Kim, G. Y. You, J. O. Lee, J. Kim, H. S. Kim, S. H. Park.


Gene Structure and Gene Product Function

 

773T   Phosphodiesterase 11A (Pde11a) expression in mouse tissues and characterization of a Pde11a mouse knock-out model. I. Levy, M. Starost, E. Ball, F. Faucz, S. Koliavasillis, A. Horvath, K. Tsang, K. Nedella, M. Alatsatianos, M. Nesterova, C. Stratakis.

774T   Phylogenomics studies and structuralist model of information. P. Grigoriu, Bogota.

775T   Replacement of the myotonic dystrophy type 1 CTG repeat with ‘non-CTG repeat’ insertions in specific tissues. M. M. Axford, A. Lopez-Castel, M. Nakamori, C. A. Thornton, C. E. Pearson.

776T   Blood platelet as a new model to study the interactions of the Fragile X mental retardation protein with the cytoskeleton. A. J. Meunier, F. Corbin.

777T   The role of AGG interruptions in the FMR1 CGG repeat during transmission in a clinical sample. C. M. Yrigollen, B. Durbin-Johnson, R. J. Hagerman, F. Tassone.

778T   Differential functional analyses of α-actinin isoforms. C. P. Hsu, B. Moghadaszadeh, B. E. Rider, A. H. Beggs.

779T   Genome-wide expression profiling implicates a MAST3 controlled gene set in colonic mucosal inflammation of ulcerative colitis patients. C. Labbé, G. Boucher, S. Foisy, A. Alikashani, H. Nkwimi, G. David, M. Beaudoin, P. Goyette, G. Charron, J. D. Rioux.

780T   BAC-based small-molecule screen to investigate regulation of the macular degeneration candidate gene HTRA1. J. D. Hoffman, P. C. Mayo, N. C. Schnetz-Boutaud, D. P. Mortlock, J. L. Haines.

781T   Determination of SNPs in miR-9 genes related regions in alcoholism using COGA samples. Y. Wang, O. Anees, N. Kinstlinger, A. Pietrzykowski.

782T   Deciphering of the molecular events governing hMSH4 protein homeostasis in human cells. Y. Xu, C. Her.

783T   Clinical and genetic characteristics of patients with X-linked deafness. R. Birkenhager, E. Prera, N. Lueblinghoff, S. Arndt, A. Aschendorff, R. Laszig.

784T   Identification of protein sub-networks implicated in autism spectrum disorders. C. Correia, Y. Diekmann, J. B. Pereira-Leal, A. M. Vicente, Autism Genome Project Consortium.

785T   TAS2R38 variation and its impact on bitter and thermal tasting in humans. A. B. Bering, G. Pickering, P. Liang.

786T   Genetic regulation of ABC transporter expression in human liver and kidney. A. Chhibber, S. W. Yee, C. Wen, R. J. Eclov, H. Fukushima, K. M. Giacomini, D. L. Kroetz.

787T   Identification of putative causal genes for IBD in the 1q32 region: From genetics to biological mechanism. G. David, M. Budarf, G. Charron, S. Foisy, A. Gardet, R. J. W. Heath, R. J. Xavier, J. D. Rioux.

788T   Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome type 2. J. Wang, J. C. de Greef, J. Balog, J. T. den Dunnen, R. R. Frants, K. R. Straasheijm, C. Aytekin, M. van der Burg, L. Duprez, A. Ferster, A. R. Gennery, G. Gimelli, I. Reisli, C. Schuetz, A. Schulz, D. F. C. M. Smeets, Y. Sznajer, C. Wijmenga, M. C. van Eggermond, M. M. van Ostaijen-ten Dam, A. C. Lankester, M. J. D. van Tol, P. J. van den Elsen, C. M. Weemaes, S. M. van der Maarel.

789T   The asthma susceptibility gene, DENND1B regulates TNFα signaling. M. E. March, P. M. A. Sleiman, C. Hou, J. Bradfield, C. E. Kim, E. C. Frackelton, J. T. Glessner, H. Hakonarson.

790T   Functional characterization of the role that components of the retrograde transport machinery play in early HIV events. S. Liu, M. Dominska, D. Dykxhoorn.

791T   Mycobacterium leprae-dependent antigen presentation in primary human macrophages with PARK2 gene mutations. R. H. M. Sindeaux, V. S. Sotomaior, D. E. Costa, A. C. Senegaglia, M. T. Mira.

792T   Delineating causal variation and the regulatory landscape at TNFSF4 in systemic autoimmunity. H. Manku, R. Torres, C. Langefeld, S. Guerra, T. Malik, G. Gilkeson, J. Edberg, R. Kimberley, S. Nath, B. Tsao, R. Festenstein, T. Vyse, LLAS2, SLEGEN.

793T   The protection roles of phosphorylated heat shock protein 27 in human cells harboring MERRF A8344G DNA mutation. M. Hsieh, H. F. Chen, C. Y. Chen, Y. S. Ma, Y. H. Wei.

794T   Advances in understanding the molecular mechanism of Goldberg-Shprintzen syndrome. L. Drévillon, A. Megarbane, D. Gaillard, P. Benit, C. Matar, A. Briand-Suleau, J. Ghoumid, M. Nasser, V. Bodereau, M. Conti, M. Doco-Fenzy, P. Rustin, M. Goossens, I. Giurgea.

795T   Genetic and functional characterization of the RNF114 psoriasis susceptibility gene implicates dysregulation of innate antiviral responses in disease pathogenesis. F. Capon, A. Onoufriadis, S. Kanneganti, A. D. Burden, J. N. Barker, M. J. Bijlmakers, R. C. Trembath.

796T   Secretion-defective genetic variants of decoy receptor 3 in pediatric-onset Crohn’s disease. C. J. Cardinale, S. Panossian, F. Wang, E. C. Frackelton, C. E. Kim, F. D. Mentch, R. M. Chiavacci, K. Kachelries, R. Pandey, S. F. A. Grant, R. N. Baldassano, H. Hakonarson.

797T   The role of pyrin on cell migaration and the effect of colchicine in the process. A. Cetinkaya, E. Taskiran, Y. Akkaya, B. Peynircioglu, M. Alikasifoglu, E. Yilmaz.

798T   The effect of colchicine on LPS-induced MEFV gene expression. E. Yilmaz, E. Taskiran, A. Cetinkaya, Y. Akkaya, B. Peynircioglu.

799T   Alternative splicing of MBNL2 transcripts upon C2C12 differentiation. M. Fardaei, N. Farajzadeh.


Genomics

 

800T   Disease alleles in the general population: HGMD-DM variants in the 1000 Genomes Pilot samples. Y. Xue, Y. Chen, N. Huang, E. V. Ball, M. Mort, A. D. Phillips, P. D. Stenson, D. N. Copper, C. Tyler-Smith, 1000 Genomes Project.

801T   Genome-wide gene expression profiling of monozygotic twins discordant for autism spectrum disorder. E. L. Meaburn, C. Wong, J. Mill, A. Ronald, T. Price, L. C. Schalkwyk, R. Plomin.

802T   The genetics of idiopathic membranous nephropathy elucidated by GWAS. H. Stanescu, M. Arcos-Burgos, A. Medlar, A. Kottgen, D. Bockenhauer, S. H. Powis, J. M. Hofstra, P. Brenchley, J. Feehally, A. J. Rees, H. Debiec, J. F. M. Wetzels, P. Ronco, P. W. Mathieson, R. Kleta.

803T   Whole genome gene expression profile of omental adipose tissue in obese type 2 diabetic African Americans. A. P. Doumatey, H. Xu, A. Adeyemo, A. Elkahloun, H. Huang, C. N. Rotimi.

804T   Adiponectin Q gene harbors risk variants for susceptibility traits of metabolic syndrome. S. Majid, M. Al-Najai, E. Andres, S. Elhawari, M. Vigilla, D. Gueco, P. Muiya, M. Al-shahid, N. Dzimiri.

805T   Surprisingly low frequency of deep heteroplasmy in human mitochondrial DNA; however, old people tend to have more heteroplasmies but at lower levels in blood. S. Sommer, C. Buzin, R. Boles, C. Boysen, W. Scaringe.

806T   Integrated transcriptome and enhancer networks during inner ear hair cell regeneration by Next-Gen sequence analysis. Y. Ku, N. Renaud, R. Veile, C. Helms, M. Warchol, M. Lovett.

807T   Genome-wide gene expression study of peripheral blood monocytes for osteoporosis. H. Shen, Y. Chen, T. Xu, C. H. Yi, Y. Z. Liu, H. W. Deng.

808T   Admixture mapping of fat mass in African American women identifies region on 3q13.31. L. Preus, L. E. Sucheston, J. Wactawski-Wende, N. Johnson, F. Zakharia, H. Tang, N. Risch, C. Ambrosone, C. Carlson, C. Carty, Z. Chen, C. Hutter, R. Kaplan, C. Kooperberg, S. Liu, M. Neuhouser, U. Peters, C. Thompson, H. M. Ochs-Balcom.

809T   A genome-wide association study for primary open-angle glaucoma: Results from the NEIGHBOR and GLAUGEN consortia. B. L. Yaspan, J. L. Wiggs, M. A. Hauser, J. H. Kang, L. M. Olson, R. R. Allingham, D. L. Budenz, H. Chin, D. S. Friedman, D. Gaasterland, T. Gaasterland, C. Laurie, R. K. Lee, P. Lichter, S. Loomis, Y. Liu, S. Moroi, A. Realini, J. E. Richards, J. S. Schuman, K. Singh, D. Vollrath, R. Weinreb, G. Wollstein, D. Zach, K. Zhang, M. A. Pericak-Vance, L. R. Pasquale, J. L. Haines.

810T   Triplet domain hyper-amplification drove human-lineage specific DUF1220 domain expansion. M. O'Bleness, L. Dumas, H. Kehrer-Sawatzki, G. Wyckoff, J. Sikela.

811T   Identification of non-coding elements as candidate sequences associated with diseases. A. Henrion, M. Naville, M. Girard, C. Mugnier, S. Bandiera, A. Munnich, M. Le Merrer, S. Lyonnet, H. Roest Crollius.

812T   Development of a novel multiplex assay for major Y haplogroup assignment. T. D. Parrish, A. E. Justice, S. M. Johnson, K. G. Beaty, C. Phillips-Krawczak, P. Williams, M. H. Crawford.

813T   Alzheimer’s disease susceptibility loci: Evidence for natural selection and altered gene expression. T. Raj, J. M. Shulman, B. T. Keenan, L. B. Chibnik, D. A. Evans, D. A. Bennett, B. E. Stranger, P. L. De Jager.

814T   Co-existence of hemoglobin D and IVSII-5 in the same allele of beta globin gene in Iranian population. N. Bayat, F. Daneshimehr, S. Jalilnejad, N. Faramarzi, H. Imanian, A. Azarkeivan, H. Najmabadi.

815T   Vitamin D sufficiency modulates the effect of polymorphisms on bronchodilator response in asthmatics. A. C. Wu, B. E. Himes, K. Tantisira, S. T. Weiss, A. Litonjua.

816T   Keeping it in the family. E. Bruford, L. Daugherty, M. Lush, R. Seal, M. Wright.

817T   Genetic risk factors associated with systemic lupus erythematosus in reactive intermediate genes vary across African ancestries. J. Oates, D. Kamen, P. Gaffney, C. Langefeld, J. Kelly, K. Kaufman, R. Kimberly, T. Niewold, C. Jacob, B. Tsao, E. Brown, M. Petri, R. Ramsey-Goldman, J. Reveille, L. Vila, J. James, J. Guthridge, J. Merrill, S. Boackle, B. Freedman, H. Scofield, A. Stevens, T. Vyse, L. Criswell, K. Moser, M. Alarcon-Riquelme, J. Harley, G. Gilkeson, P. Ramos.

818T   Tailored pathway-based analysis identifies significant enrichment of apoptosis-related genes associated with cardiac manifestations of neonatal lupus. P. Ramos, M. Marion, C. Langefeld, J. Buyon, R. Clancy.

819T   Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. M. A. R. Ferreira, M. C. Matheson, D. L. Duffy, G. B. Marks, J. Hui, P. Le Souef, S. Baltic, G. Willemsen, W. Ang, M. Kuokkanen, J. Beilby, F. Cheah, A. Ramasamy, S. Vedantam, P. A. Madden, A. C. Heath, J. L. Hopper, M.-R. Jarvelin, D. I. Boomsma, J. Hirschhorn, H. Walters, N. G. Martin, A. James, G. Jones, M. J. Abramson, C. F. Robertson, S. C. Dharmage, M. A. Brown, G. W. Montgomery, P. J. Thompson, Australian Asthma Genetics Consortium.

820T   Association of polymorphisms of the TNIP1 gene with celiac disease. R. McManus, A. W. Ryan, M. P. Sperandeo, C. Coleman, L. Greco, G. Turner.

821T   Genetic determinants and racial differences in childhood asthma. T. Mersha, M. Butsch Kovacic, J. Biagini Myers, L. Martin, M. Lindsey, T. Patterson, H. He, M. Ericksen, J. Gupta, A. Tsoras, A. Lindsley, M. Rothenberg, M. Wills-Karp, N. Eissa, L. Borish, G. Hershey.

822T   Whole genome sequencing and rare variant analyses of a multiplex bipolar pedigree. J. Xing, C. D. Huff, B. Moore, R. Robinson, J. Ross, M. D. Yandell, J. A. Badner, W. Byerley.

823T   Genetic variation on inducible gene expression. H. J. French, K. Hardy, M. F. Shannon, R. B. H. Williams.

824T   Genetic variation of FGF-23 gene associates with phosphate homeostasis and bone health in Finnish children and adolescents. M. Pekkinen, H. T. Viljakainen, R. Mäkitie, C. Laine, O. Mäkitie.

825T   Known bone mineral density (BMD)-associated SNP allele frequencies reflect trends in average population BMD across European, Asian and African populations. M. Ramsay, A. Choudhury.

826T   Combined haplotype sharing analysis and QTL mapping for identification of disease risk alleles. H. Sadeghi, S. Müller, A. Recke, S. Möller, U. Samavedam, D. Zillikens, S. M. Ibrahim, R. J. Ludwig.

827T   Integrative analysis of genotype and gene expression data from blood and sputum samples identifies potential functional mechanisms for COPD genetic risk loci. P. Castaldi, W. Qiu, M. Cho, J. Riley, W. Anderson, D. Singh, P. Bakke, A. Gulsvik, A. Litonjua, D. Lomas, J. Crapo, T. Beaty, B. Celli, S. Renard, R. Tal-Singer, S. Fox, E. Silverman, C. Hersh.

828T   Genome-wide association study for central adiposity in African Americans. C.-T. Liu, K. L. Monda, K. C. Taylor, L. Lange, A. Adeyemo, M. Allison, D. M. Becker, L. F. Bielak, I. Borecki, G. Burke, C. Carlson, M. K. Evans, J. N. Hirschhorn, E. K. Kabagambe, Y. Liu, C. Palmer, G. Papanicolaou, S. Paterl, P. Schreiner, H. Taylor, L. R. Yanek, E. W. Demerath, L. A. Cupples, K. E. North, C. S. Fox on behalf of African American Central Adiposity Consortium and CARe Consortium.

829T   A unifying framework for analyzing rare variant quantitative trait associations in selected samples: Application to sequence data. D. J. Liu, R. C. Banuelos, S. M. Leal.

830T   Million Veteran Progam: Department of Veterans Affairs longitudinal cohort for genomic and epidemiologic research. S. Muralidhar, R. Przygodzki, M. J. Gaziano, J. Concato, L. D'Avolio, L. Fiore, M. Brophy, T. J. O'Leary.

831T   Determining the genomic factors of sickle cell disease severity among West African children. J. Quinlan, Y. Idaghdour, E. Gbeha, A. Sanni, M. C. Rahimy, P. Awadalla.

832T   Who will be the biggest loser? GWAS reveals clues about response to gastric bypass. E. Rinella, C. Still, Y. Shao, G. C. Wood, X. Chu, G. Gerhard, H. Ostrer.

833T   Does predisposition to unhealthy eating behavior share genetic variants with genes influencing obesity? A genome-wide association study on eating behavior and obesity indices. Y. Yang, D. H. Lee, M. Lee, Y. M. Song, J. Sung.

834T   A genome-wide screen of gene-gene interactions for osteoporosis susceptibility. F. P. Zhao, T. L. Yang, Y. Guo, H. Shen, Q. Tian, H. W. Deng.

835T   Genome-wide association study of early-onset myasthenia gravis: Identification of TNIP1 and evidence for multiple autoimmune loci. R. Kosoy, M. F. Seldin, A. Lee, J. Lamb, N. Wilcox, F. Piehl, R. Pirskanen, J. J. G. M. Verschuuren, M. Titulaer, J. Sussman, D. McKee, A. Maniaol, A. Elsais, C. Tallaksen, B. A. Lie, H. F. Harbo, B. Tackenberg, M. Pütz, H.-J. Garchon, A. Melms, L. Hammarstrom, P. K. Gregersen, Myasthenia Gravis Genetics Consortium.

836T   Association of SLE specific susceptibility alleles with ANA production or transition to disease. P. Raj, D. R. Karp, Q. Z. Li, P. Doshi, N. Olsen, K. Moser, J. A. Kelly, E. K. Wakeland.

837T   Direct assessment and validation of allele-specific transcription factor binding in the human genome. A. Schiavi, V. Adoue, S. Busche, B. Ge, T. Kwan, T. Pastinen.

838T   Evaluation of oral samples and tracheal fluid collection from premature newborns as a source of DNA for genotyping. J. Niles, V. Biran, R. M. Iwasiow.

839T   Rare functional variants in CFH, LIPC, and TLR3 segregate with severe bilateral AMD in multiplex families negative for known risk alleles. J. Ayala-Haedo, A. G. Martinez, W. Cade, I. Konidari, A. Agarwal, S. G. Schwartz, J. L. Kovach, G. Wang, W. K. Scott, J. L. Haines, M. A. Pericak-Vance.

840T   Using genomic markers to stratify risk for prostate cancer: A case study and literature review. J. Davies, A. Lionel, L. Velsher, R. Singal, J. Aw.

841T   Genome-wide association study for the personality trait in Korean women. H. Kim, S. Kim, C. Hong, E. Lee, Y. Sung, H. Chung, J. Lee, H. Kim.

842T   Genome-wide association study of systemic lupus erythematosus specific autoantibodies to Sm B’, Sm D1 and 60 kD Ro peptide epitope in European Americans. C. P. Lin, I. Adrianto, J. A. Kelly, K. M. Kaufman, J. Anderson, L. Curley, S. B. Glenn, J. B. Harley, P. M. Gaffney, K. L. Moser, J. A. James, C. G. Montgomery.

843T   Rapid identification of mutations responsible for Mendelian disorders. J. Majewski, J. Schwartzentruber, E. Lalonde, R. Koenekoop, E. Shoubridge, N. Jabado, D. Rosenblatt, RaDiCAL.

844T   Admixture analyses identifies a region on 19q13 associated with femoral neck bone mineral density in African American women from the Women’s Health Initiative-SNP Health Association Resource. L. Sucheston, H. Ochs-Balcom, L. Preus, N. Johnson, F. Zakharia, H. Tang, N. Risch, C. Carty, Z. Chen, C. B. Ambrosone, J. Nie, M. Neuhouser, S. Liu, M. Seldin, C. Carlson, C. Hutter, C. L. Thompson, R. Jackson, C. Kooperberg, U. Peters, J. Wactawski-Wende.

845T   DNA methylation in early-stage non-small cell lung cancer. N. Tonisson, K. Kirotar, T. Vooder, R. Kolde, K. Välk, R. Roosipuu, L. Milani, K. Fischer, M. Solovjova, T. Annilo, A. Metspalu.

846T   Whole exome sequencing of populations of African ancestry. A. Adeyemo, D. Hernandez, J. R. Gibbs, A. Doumatey, H. Huang, D. Shriner, J. Adeleye, W. Balogun, J. Zhou, O. Fasanmade, T. Johnson, J. Oli, G. Okafor, A. Amoah, B. Eghan, K. Agyenim-Boateng, J. Acheampong, C. Adebamowo, A. Singleton, C. Rotimi.

847T   Combined comprehensive exome sequencing and exon-resolution CGH for identification of germ line alleles in inherited cancer susceptibility syndromes. T. Albert, H. Ji, S. Garcia, D. Newburger, D. Burgess, K. Kingham, M. D'ascenzo, T. Richmond, R. Selzer, X. Zhang, J. M. Bell, J. M. Ford.

848T   Patterns of indel variation in 202 drug target genes from >14,000 individuals. N. Bing, K. C. Huang, E. Y. Liu, J. Li, D. Fraser, J. Aponte, X. Liu, H. Zhang, A. Slater, P. Woollard, S. L. Chissoe, J. C. Whittaker, V. E. Mooser, M. G. Ehm, S. Zöllner, J. Novembre, Y. Li, M. R. Nelson.

849T   Whole-exome and transcriptome sequencing of families with primary immunodeficiencies. F. Casals, Y. Idaghdour, I. Fernández, V. Bruat, T. de Malliard, E. Haddad, F. Le Deist, P. Awadalla.

850T   A comprehensive comparison of whole human genome and exome sequencing technologies. M. J. Clark, R. Chen, H. Lam, M. O'Huallachain, K. Karczewski, G. Euskirchen, P. Lacroute, M. Snyder.

851T   Whole genome analysis of clinical samples using Omicia's genome annotation system. E. Coonrod, R. Margraf, P. Ridge, S. Guthery, J. Durtschi, E. Lyon, L. Jorde, M. Yandell, A. Russell, S. Chervitz, E. Kiruluta, M. G. Reese, K. V. Voelkerding.

852T   Comparison of library construction methods and evaluation of whole exome capture products for next-gen sequencing. B. Craig, K. Hetrick, B. Marosy, J. Romm, H. Ling, E. W. Pugh, K. F. Doheny.

853T   Whole-genome medical annotation of admixed genomes reveals ancestry-related ascertainment biases in variants of clinical significance. F. De La Vega, A. Moreno-Estrada, A. Russell, J. K. Byrnes, J. M. Kidd, S. Gravel, M. G. Reese, C. D. Bustamante.

854T   Phased whole genome genetic risk in a family quartet. F. E. Dewey, R. Chen, S. P. Cordero, K. E. Ormond, C. C. Caleshu, K. J. Karczewski, M. W. Carrillo, M. T. Wheeler, J. T. Dudley, J. K. Byrnes, O. E. Cornejo, J. W. Knowles, M. Woon, K. Sangkuhl, L. Gong, C. F. Thorn, J. M. Hebert, E. Capriotti, S. P. David, A. Pavlovic, A. West, J. S. West, C. D. Bustamante, M. P. Snyder, R. B. Altman, T. E. Klein, A. J. Butte, E. A. Ashley.

855T   Evaluation of mitochondrial DNA alignment data in Illumina HiSeq whole genome sequencing for quality control monitoring. J. D. Durtschi, R. L. Margraf, P. G. Ridge, K. V. Voelkerding.

856T   Rapid detection of the ACMG/ACOG recommended 23 CFTR mutations using Ion Torrent semiconductor sequencing. A. Elliott, J. Radecki, B. Moghis, X. Li, A. Kammesheidt.

857T   Exome sequencing and unrelated findings in the context of complex disease research: Ethical and clinical implications. E. C. Frackelton, G. J. Lyon, H. Hakonarson, T. Jiang, R. Van Wijk, W. Wang, P. Bodily, J. Xing, L. Tian, R. Robison, M. Clement, L. Yang, P. Zhang, Y. Liu, B. Moore, J. Glessner, J. Elia, F. Reimherr, W. Van Solinge, M. Yandell, J. Wang, W. E. Johnson, Z. Wei, K. Wang.

858T   Identifying potentially life-threatening variants in an unscreened population using whole exome sequencing. S. G. Gonsalves, D. Ng, J. J. Johnston, F. M. Facio, S. L. Ruppert, C. Krause, J. K. Teer, J. C. Mullikin, L. G. Biesecker, NIH Intramural Sequencing Center.

859T   Leveraging off-target sequence reads for more precise inference of local ancestry and haplotypes from exome sequence data. Y. Hu, Y. Lo, G. Abecasis, H. Kang, 1000 Genomes Consortium.

860T   Multi-pronged approach to highly accurate, highly comprehensive complete human genomes. S. Jacobs, J. Baccash, C. Tian, S. Ghosh, G. Nilsen, K. P. Pant.

861T   Development of an automated sample preparation and quality control pipeline for high-throughput sequencing applications. J. Lambert, A. Barry, S. Cohen.

862T   Exome sequencing identifies mutations in PDE4D, encoding phosphodiesterase 4D, in acrodysostosis. H. Lee, J. M. Graham, D. L. Rimoin, R. S. Lachman, S. F. Nelson, D. Krakow, D. H. Cohn.

863T   Low DNA input optimization using Agilent SureSelect XT library prep and whole exome selection for next-generation sequencing. B. Marosy, B. Craig, K. Hetrick, K. F. Doheny.

864T   Whole-exome sequencing in multiplex families with multiple sclerosis. J. L. McCauley, A. H. Beecham, A. Hadjixenofontos, P. L. Whitehead, I. Konidari, A. Aviram, Y. Pasco, S. L. Hauser, J. R. Oksenberg, D. J. Hedges, J. M. Vance, J. L. Haines, M. A. Pericak-Vance.

865T   A nucleic acid fractionation solution for high-throughput sequencing applications. I. Meek, E. Wong-Ho, J. Molho.

866T   Multiplex exome enrichment with a new system from pooled barcoded libraries yields efficient variant detection on the SOLiD™ System. G. Meredith, G. Bee, M. Dudas, L. Pickle, C. Adams, W. Zhang, M. Allen, J. Bishop, Y. Sun, G. Marnellos, M. Storm, J. Ichikawa, R. Bennett.

867T   Characterization of non-unique insertion content in the mouse genome using next-generation paired-end sequencing. N. Parrish, F. Hormozdiari, E. Eskin.

868T   Optimized automation of next-generation, multiplexed DNA sequencing. E. A. Phillips, S. R. Austin, A. N. Gracien, M. R. Annable, C. E. Igartua, B. P. Munson, M. B. Mynsberg, K. M. Sawatzki, M. L. Tackett, L. A. Urquhart, B. W. Paeper, J. D. Smith, E. H. Turner, M. J. Rieder, D. A. Nickerson.

869T   The totalome, towards a complete description of a sample. M. Rhodes, M. Storm, Y. Sun, N. Fong, J. Ichikawa, G. Meredith, C. Adams, B. Nutter, A. Tobler.

870T   Combining short (Illumina) and long (PacBio) NGS reads to improve de novo genome assemblies of rice and Saccharomyces cerevisiae genomes. M. Schatz, M. delaBastide, M. Muller, L. Gelley, E. Antoniou, R. McCombie.

871T   An updated assembly model for the human reference genome. V. A. Schneider, P. Flicek, T. Graves, T. Hubbard, D. Church for Genome Reference Consortium and NCBI Genome Annotation Team.

872T   Extensive genomic diversity identified through massively parallel sequencing of eighteen Korean individuals. J. Seo, Y. Ju, J. Kim, S. Kim, D. Hong, S. Lee, H. Park, C. Lee.

873T   Resequencing of lipid and glucose associated genes in two large Finnish cohorts. S. K. Service, T. M. Teslovich, D. Koboldt, C. Fuchsberger, V. Ramensky, M. McLellan, Q. Zhang, R. P. Welch, H. M. Stringham, W. Schierding, C. Sabatti, V. Magrini, R. Fulton, L. Ding, L. Peltonen, M. R. Jarvelin, M. I. McCarthy, F. Collins, R. N. Bergman, K. L. Mohlke, J. Tuomilehto, R. Wilson, M. Boehnke, N. B. Freimer.

874T   Targeted resequencing of SLE susceptible loci. E. K. Wakeland, E. Rai, B. Wakeland, C. Liang, N. Olsen, D. Karp, G. Wiley, K. Kaufman, J. Harley, P. Gaffney.

875T   Exome sequencing in autism spectrum disorder. S. Walker, A. Prasad, C. R. Marshall, S. L. Pereira, L. Lau, J. Foong, E. Cheran, J. Howe, O. Buske, M. Dzamba, M. Fiume, B. Thiruvahindrapuram, M. Brudno, S. W. Scherer.

876T   Long range sequence scaffolding of large genomes using the Argus™ Optical Mapping System. N. Xiao, R. Ptashkin, T. Anantharaman, B. Zhu, D. Sweeney, X. Xun, J. Henkhaus.

877T   Whole genome sequencing of one 100-year old and one discordant MZ twin pair. K. Ye, M. Beekman, E. Lameijer1, J. Houwing-Duistermaat, D. Kremer, K. Raine, B. Blackburne, S. Potluri, R. van der Breggen, R. Westendorp, P. 't Hoen, J. den Dunnen, G. van Ommen, G. Willemse, D. Cox, Z. Ning, D. Boomsma, E. Slagboom.

878T   Identification of novel loci for hereditary cataract in dogs. S. Ahonen, SL. Ricketts, C. Mellersh, H. Lohi.

879T   A genome-wide association meta-analysis reveals new childhood obesity loci. J. P. Bradfield, S. F. A. Grant, Early Growth Genetics Consortium.

880T   The Axiom® Genomic Database and the Axiom® Design Center: Designing custom genotyping arrays made easy. J. Burrill, J. Bleyhl, Y. Lu, D. Le, R. Shigeta, W. Short, A. Tracy, R. Wheeler, B. Wong, Y. Zhan.

881T   A genome-wide search for non-UGT1A1 markers associated with unconjugated bilirubin level reveals significant association with a polymorphic marker in a gene of the nucleoporin family. S. Datta, A. Chowdhury, M. Ghosh, K. Das, P. Jha, R. Colah, M. Mukerji, P. P. Majumder.

882T   Genome-wide association analysis of lactose consumption measured longitudinally identifies a novel variant 500kb downstream of the LCT gene region. K. M. Eny, S. B. Bull, A. J. Canty, L. Sun, A. P. Boright, S. M. Hosseini, P. A. Cleary, J. Lachin, A. D. Paterson, DCCT/EDIC Research Group.

883T   Identification of candidate genes of complex diseases through an integrated analysis of genome-wide association studies and expression quantitative trait loci. C. K. Fuller, X. He, H. Li.

884T   Implication of European-derived adiposity loci in African Americans. J. Hester, J. Li, P. Hicks, C. Langefeld, B. Freedman, D. Bowden, M. Ng.

885T   Toward a deep catalog of results from >1,000 genome-wide association studies. A. Johnson, R. Leslie, C. O'Donnell.

886T   Fine mapping and biological functional study of 14q24.1 breast cancer susceptibility locus. P. S. Lee, Y. P. Fu, J. Figueroa, L. Prokunina-Olsson, S. Chanock, Cancer Genetic Markers of Susceptibility Consortium.

887T   Genome-wide association study identified 3q13 and 6p12 as candidate loci for childhood eczema. T. F. Leung, H. Y. Sy, S. S. Wang, A. P. S. Kong, I. H. S. Chan, L. Y. Tse, W. C. Chan, G. W. K. Wong, J. C. N. Chan, K. L. Hon.

888T   A replication study of two genetic variants for bone mineral density variation in Caucasians. J. Li, L. S. Zhang, H. G. Hu, Y. J. Liu, P. Yu, F. Zhang, T. L. Yang, Q. Tian, Y. P. Zheng, Y. Guo, H. W. Deng.

889T   Genome-wide association study of hematological traits among African American children. J. Li, P. Sleiman, C. Kim, C. Hou, J. Glessner, F. Mentch, H. Zhang, Y. Guo, S. L. Furth, H. Hakonarson.

890T   Multi-cohort genome-wide association study reveals a new signal of protection against HIV-1 acquisition. S. Limou, O. Delaneau, D. van Manen, P. An, E. Sezgin, S. Le Clerc, C. Coulonges, J. L. Troyer, J. H. Veldink, L. H. van den Berg, J. L. Spadoni, L. Taing, T. Labib, M. Montes, J. F. Delfraissy, F. Schachter, S. J. O'Brien, S. Buchbinder, M. L. van Natta, D. A. Jabs, P. Froguel, H. Schuitemaker, J. F. Zagury, C. A. Winkler.

891T   Genome-wide association study in the GAIT project disclose sex-specific regulation of mitochondrial DNA levels. S. Lopez, A. Buil, J. C. Souto, J. Casademont, J. Blangero, A. Martínez, L. Rib, J. Fontcuberta, L. Almasy, J. M. Soria.

892T   Genome-wide association study of juvenile idiopathic arthritis identifies novel susceptibility loci associated with early disease onset. M. Marion, P. Ramos, M. Sudman, M. Ryan, M. Tsoras, S. Kramer, M. Wagner, D. Glass, C. Langefeld, S. Thompson.

893T   A three-stage genome-wide association study in progressive multiple sclerosis. F. Martinelli Boneschi, P. Brambilla, F. Esposito, H. Abderrahim, M. Rodegher, B. Colombo, L. Moiola, V. Martinelli, J. Hillert, E. Lindstrom, H. F. Harbo, A. B. Oturai, J. Wojcik, D. Booth, T. J. Kilpatrick, G. Stewart, J. Stankovich, J. Rubio, G. Comi.

894T   Evaluating genomic copy number variations in a Brazilian population of adult sickle cell anemia patients with and without stroke complication. F. Menaa, MA. Bezerra, A. Silva Araujo, G. Ananina, P. Rodrigues Souza da Cruz, G. Pereira Gil, F. Ferreira Costa, M. Barbosa de Melo.

895T   Translation of genomic medicine: Use of GWAS studies for drug repositioning. V. Mooser, P. Agarwal, M. Barnes, L. Cardon, P. Sanseau.

896T   A genome-wide association study identifies the association of HLA-DP locus with chronic hepatitis B and viral clearance. N. Nishida, H. Sawai, Y. Mawatari, M. Yamaoka, A. Koike, K. Matsuura, Y. Tanaka, M. Sugiyama, k. Ito, M. Mizokami, K. Tokunaga.

897T   Genome-wide association study identified new susceptibility loci for Kawasaki disease. Y. Onouchi, K. Ozaki, J. C. Burns, C. Shimizu, M. Terai, H. Hamada, H. Suzuki, T. Suenaga, Y. Suzuki, K. Yasukawa, R. Ebata, T. Saji, Y. Kemmotsu, K. Ouchi, F. Kishi, T. Yoshikawa, T. Nagai, K. Hamamoto, Y. Sato, K. Sasago, A. Takahashi, N. Kamatani, M. Kubo, T. Tsunoda, A. Hata, Y. Nakamura, T. Tanaka.

898T   GWAS in neurofibromatosis type 1: Progress update. A. Pemov, H. Sung, A. F. Wilson, D. R. Stewart.

899T   Genome-wide association of structural MRI data identifies variants associated with amygdala volume. P. M. A. Sleiman, T. Satterthwaite, K. Ruparel, C. Kim, R. Chiavacci, J. Richard, M. E. Calkins, R. C. Gur, J. Loughead, R. E. Gur, H. Hakonarson.

900T   A genome-wide association study examining obese factors in an Arab family with a history of type 2 diabetes. G. Tay, H. Alsafar, H. Cordell, S. Jamieson, K. Khazanehdari, R. Francis, J. Blackwell.

901T   Meta-analysis of genome-wide association studies identifies novel loci for lung function. M. D. Tobin, M. Soler Artigas, D. W. Loth, L. V. Wain, S. A. Gharib, M. Obeidat, W. Tang, B. H. Stricker, P. Elliott, G. T. O'Connor, D. P. Strachan, S. J. London, I. P. Hall, V. Gudnason, SpiroMeta Consortium, CHARGE Consortium.

902T   Genome-wide association analysis of rare variants with type 2 diabetes. M. E. Travers, R. Magi, J. Chen, K. Gaulton, A. L. Gloyn, M. I. McCarthy, I. Prokopenko, A. P. Morris.

903T   Genome-wide association study results in dbGaP. Z. Wang, Y. Jin, M. Xu, Y. Shao, M. Kimura, R. Bagoutdinov, N. Popova, J. Paschall, N. Sharopova, S. Pretel, A. Sturcke, L. Hao, L. Ziyabari, L. Phan, S. Sherry, M. Feolo.

904T   A new reference dataset for imputing common and uncommon SNPs. Z. Wang, K. B. Jacobs, M. Yeager, A. Hutchinson, J. Sampson, M. Tucker, S. J. Chanock.

905T   Genome-wide association study identifies novel susceptibility candidates for Kawasaki disease. J. Wu, Y. Lee, F. Tsai, L. Chang, Y. Liu, Y. Chen, C. Chen, Y. Chen.

906T   In search of genetic attributors of handedness. M. Xu, G. Pare, P. Kraft, E. B. Rimm, D. J. Hunter, D. Chasman, J. Han.

907T   Bimodality filtering to prioritize genes for eQTL analysis of allelic imbalance. K. Azad, B. Ge, T. Pastinen, C. M. T. Greenwood.

908T   A linear complexity HMM phasing method for unrelateds and nuclear families. O. Delaneau, J. Marchini, J. F. Zagury.

909T   RNA polymorphisms: Impact on the transcriptome and on complex traits. E. R. Gamazon, D. S. Park, N. J. Cox.

910T   TAG-PCR allows rapid high-throughput sequencing of targeted genomic regions in pooled barcode-labeled samples. G. Haller, C. Cruchaga, A. Goate.

911T   High-throughput single molecule DNA mapping in nano-channels. E. T. Lam, A. Hastie, D. S. Ehrlich, D. Somas, M. D. Austin, P. Deshpande, C. Lin, H. Cao, M. Xiao, P.-Y. Kwok.

912T   Genomic analysis of 15q duplication/deletion disorders reveals differential regulation of genes with FOXP1 and NF-Y binding sites. L. Reiter, T. J. Bischell, W. Taylor, N. Urraca.

913T   Extensive characterization of NF-κB binding uncovers non-canonical motifs and advances the interpretation of genetic functional traits. D. Wong, A. Teixeira, S. Oikonomopoulos, P. Humburg, I. N. Lone, D. Saliba, T. Siggers, M. Bulyk, D. Angelov, S. Dimitrov, I. Udalova, I. Ragoussis.


Technology Advancement

 

914T   Characteristics of an online consumer genetic research cohort. J. Y. Tung, N. Eriksson, A. K. Kiefer, J. M. Macpherson, B. T. Naughton, A. B. Chowdry, C. B. Do, D. A. Hinds, A. Wojcicki, J. L. Mountain.

915T   Simultaneous evaluation of small RNA, whole transcriptome, whole genome and targeted resequencing on next-generation sequencing platforms. C. Patel, N. Fong, J. Briggs, Q. Doan, M. Storm, Y. Sun, P. Kinney, R. Padilla, H. Shepherd, L. Joe, T. Burcham.

916T   Enhancer mixture for amplifying genes with CpG islands in PCR. F. De La Cruz-Ruiz, M. C. Martinez-Lopez, J. L. Cortes-Peńaloza, D. Cadena-Sandoval, E. Zamarron-Licona.

917T   Non-invasive specimen collection for molecular diagnostics and point-of-care testing. C. Dobbin, M. Abdalla, M. Elmogy, W.-S. Kim, Y. Haj-Ahmad.

918T   Measuring the chronology of technology transfer of molecular genetic discoveries. F. Rousseau, C. Lindsay, Y. Gigučre, J. Jbilou, R. Landry, N. Amara.

919T   DUNES Environment: A suite of tools and software to support data harmonization and synthesis. D. Doiron, V. Ferretti, F. L'Heureux, M. Naccache, I. Fortier.

920T   Miniaturization and automation of one-step gene expression using the Access™ laboratory workstation and the Echo® liquid handler. R. Dyer, C. Glazer, S. Datwani, J. Barco, T. Allison.

921T   Sequencing of expanded CGG repeats in the FMR1 gene. E. Loomis, J. Yen, J. Major, F. Tassone, P. J. Hagerman.

922T   Next-gen sequencing of HLA class I and class II exons with GS GType HLA primer sets on the GS Junior system. C. S. Teiling, C. Holcomb, B. Hoglund, P. Moonsamy, B. Simen, E. Blake, K. McGowan, H. A. Erlich.

923T   Genetic modification of cancer cells using non-viral, episomal S/MAR vectors for in vivo tumor modeling. S. P. Wong, O. Argyros, R. Harbottle.

924T   High-throughput validation of next-generation sequencing results from lung cancer samples using a novel custom genotyping platform. R. Selzer, K. Lo, J. Patel, M. Watt, X. Zhang, T. Richmond, M. You, P. Liu, T. Albert.

925T   Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations. J. Thompson, J. Reifenberger, E. Giladi, K. Kerouac, J. Gill, E. Hansen, A. Kahvejian, P. Kapranov, T. Knope, D. Lipson, K. Steinmann, P. Milos.

926T   Enhanced multiplexing capabilities using the Agilent Technologies SureSelectXTII target enrichment system for fast and easy pre-capture indexing. B. Arezi, A. Giuffre, S. Joshi, H. Ravi, M. McCarthy, K. Chen, J. Ong, B. Novak, M. Visitacion, M. Hamady, C. Pabón-Peńa, F. Useche, E. Lin, W. Liu, S. Hunt, D. Roberts, S. Happe, E. Leproust.

927T   Automating high-throughput production of libraries for massively parallel sequencing platforms. J. Bishop, M. Allen, W. Zhang, D. Mandelman, M. Landers, A. Harris, R. Bennett.

928T   Next-generation sequencing high-throughput solution for illumina fragment library sample preparations. M. E. Blair, K. L. Marshall, R. Zhang, A. Jackson.

929T   A stream-lined process for Amplicon resequencing using Ion Torrent’s personal genome machine coupled with Fluidigm’s access array. J. Boland, D. Roberson, J. Bacior, V. Lonsberry, A. McCary, A. May, M. Pieperzyk, M. Yeager, K. B. Jacobs, A. A. Hutchinson, S. J. Chanock.

930T   Genetics, meet genomics: Using SNPs to guide variant discovery in sequencing data. R. Daber, S. Mulchandani, J. Ganesh, M. Mennuti, E. A. Tsai, H. C. Lin, B. A. Haber, P. F. Whitington, L. K. Conlin, H. Hakonarson, N. B. Spinner.

931T   Real-time data quality feedback for next-generation sequencing of a breast cancer whole transcriptome library. R. Fish, S. Ngola, M.-Y. Shen, L. Jones, J. Ziegle, N. Fong, K. Perry, S. Chang, L. Lua, L. Liu, M. Mariano, A. Vadapalli, L. Xu, S. Yerramalli, E. Wang, C. Yang, L. Joe.

932T   Targeted resequencing on Illumina’s MiSeq: Methods for rapid validation and cost effective extension studies of putative genetic variants. S. Fisher, C. Russ, J. Flannick, N. Burtt, M. DePristo, W. Winckler, M. Carneiro, M. Parkin, J. Abreu, R. Hegarty, D. Perrin, T. DeSmet, M. Coole, J. Meldrim, C. Nusbaum, R. Nicol, S. Gabriel.

933T   Automation method suite for NGS downstream applications: PCR cleanup, real-time qPCR quantification, normalization and pooling using Biomek FXp Laboratory Automation Workstation. A. Jackson, R. Zhang, K. Marshall, M. Blair, J. Schlitz.

934T   Target enrichment for human Kinome RNA and DNA sequencing. E. Lin, A. Giuffre, B. Novak, M. Visitacion, M. Hamady, F. Useche, V. Kulkarni, W. Liu, T. Fjelsted, C. Pabón-Peńa, S. Hunt, D. Roberts, S. Happe, E. Leproust.

935T   Advanced capture-sequencing: New designs and multiplexing for whole exome and regional capture sequencing applications. D. Muzny, I. Newsham, M. Wang, Y. Wu, C. Kovar, A. Sabo, R. Chen, J. Reid, M. Bainbridge, E. Boerwinkle, T. Albert, R. Gibbs.

936T   Rapid Illumina library quality assessment using MiSeq. D. Perrin, I. Rasolonjatovo, D. Dionne, T. Fennell, M. Costello, S. Humphray, T. DeSmet, J. Meldrim, S. Fisher, R. Nicol.

937T   Scaling with the flow: Advantages of a MapReduce-based scalable and high-throughput sequencing workflow. L. Pireddu, S. Leo, F. Reinier, R. Berutti, R. Atzeni, G. Zanetti.

938T   Automated pyrosequencing using digital microfluidics. M. G. Pollack, D. J. Boles, J. L. Benton, G. J. Siew, M. H. Levy, M. A. Sandahl, J. L. Rouse, L. C. Perkins, V. K. Pamula, V. Srinivasan, A. E. Eckhardt.

939T   High accuracy genome sequencing on the Illumina HiSeq platform. S. R. Rawlings, S. Humphray, K. Maisinger, V. P. Smith, J. Gordon, S. Tanner, C. Tregidgo, G. Smith, K. Hall, D. Bentley.

940T   Optimizing DNA shearing utilizing Bulk Lateral Ultrasonic™ energy. S. Sharma, K. Dev, V. Vivek, J. Shieh, B. Jamieson.

941T   De novo assembly and haplotype sequencing from short sequencing reads. F. Steemers, S. Amini, N. Pignatelli, C. Turk, I. Goryshin, T. Royce, M. Ronaghi, K. Gunderson.

942T   Automated library preparation for next-generation sequencing using digital microfluidics. A. P. Sudarsan, J. L. Rouse, R. R. Dhopeshawrkar, A. Rival, A. E. Eckhardt, N. Mushero, M. Weiand, B. Minie, P. Cahill, M. G. Pollack.

943T   Complete solution for next-generation sequencing sample preparation of Roche’s GS FLX Titanium Series Kits. R. Zhang.


Clinical Genetics and Dysmorphology

 

944T   Molecular analysis of mutations in COL4A3 gene, in Mexican patients with Alport syndrome. B. Rodriguez-Espino, A. Sanchez-Boiso, R. Garcia-Vazquez, A. M. Hernandez-Sanchez, L. M. Ortiz-Vaquez, M. I. P. Garcia-Roca, B. Romero-Navarro, Y. Fuentes-Velasco, M. Medeiros-Domingo.

945T   Overlapping features of Mehes and Potocki-Lupski syndromes: Report of an adult patient with Mehes phenotype and 17p11.2 duplication. P. Sarda, K. Hollody, M. Vincent, M. Girard, A. Schneider, G. Lefort, J. Puechberty, D. Genevieve.

946T   22q11 Deletion syndrome at Siriraj Hospital, Bangkok, Thailand: 16 years review (1995-2011). A. Sathienkijkanchai, N. Vatanavicharn, P. Wasant.

947T   Molecular confirmation of Costello syndrome in siblings and use of allelic specific amplification to determine parent of origin in a cohort of patient with HRAS germline mutations. K. Sol-Church.

948T   Analysis of deletions in 22 Brazilian cases of Williams-Beuren syndrome. D. H. Souza, M. Yoshimoto, L. R. Martelli, J. A. Squire, D. Moretti-Ferreira.

949T   Refinement of the Jacobsen syndrome critical region for thrombocytopathy by aCGH. D. J. Stavropoulos, Y. Diab, W. H. Kahr, R. Babul-Hirji, D. Chitayat.

950T   A novel FOXG1 mutation causing congenital Rett syndrome presenting with lactic acidosis. M. Strenk, A. Atherton, C. Saunders, B. Heese.

951T   Müllerian anomalies should be considered a component of the clinical phenotype of 16p11.2 deletion syndrome. R. D. Susman, R. M. Kimble.

952T   A novel frame-shift mutation in the NHS gene associated with significant dental and behavioral phenotypes in females in a family with Nance Horan syndrome. M. Szybowska, A. Levine, A. Toutain, C. Li.

953T   Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome. M. Vasquez, M. Palomares, M. L. Guzman, G. Lay-Son, G. M. Repetto.

954T   The Pitt-Hopkins syndrome: Report of 20 new patients and proposal of a clinical score for the molecular test. M. Zollino, S. Ricciardi, D. Orteschi, S. Lattante, M. Murdolo, G. Marangi.

955T   JARID2 isolated deletion is associated with velo-palatal insufficiency, hypotonia and developmental delay. T. Zvi, Y. Yaron, A. Orr-Urtreger, S. Ben-Shachar.

956T   Mosiac trisomy 22 and normal developmental outcome: Report of two cases and review of the literature. D. Abdelgadir, C. Li, M. J. M. Nowaczyk.

957T   A complex de novo 4 cell line mosaic with gains of 4p15.32pter and 12p13.31pter in a patient with intellectual disability, scoliosis and foot abnormalities. S. Ahmed, K. Reddy.

958T   A de novo 4.7 Mb deletion 6p21.2p21.31 and an insertion of chromosome 6p23p21.31 into chromosome 3q26.32 with a pericentric inversion 3p25q26.32. D. Broome, K. Reddy.

959T   Characterization of the derivative X chromosome resulting from Xq;Yq translocation in a female with recurrent abortion. E. Y. Choi, D. E. Lee, B. Y. Lee, J. Y. Park, I. S. Kang, H. M. Ryu, S. Y. Park.

960T   Mosaicism for deletion 8p22-p21.2, duplication 8p21.2-p12, and loss of the Y chromosome in an adult male with de novo robertsonian translocation 13;14. D. Copenheaver, J. Meck, S. Aradhya, P. Tanpaiboon.

961T   Unexpectedly variable phenotype of a combined chromosomal disorder of 18p monosomy and 18q partial trisomy: Autopsy findings. M. Doi, H. Kuniba, S. Miura, M. Nakashima, T. Hayashi, A. Yamashita, A. Yanai, M. Obatake, K. Mochizuki, H. Moriuchi.

962T   Duplication of 10q associated with multiple congenital anomalies, dysmorphism, cognitive impairment and autism. H. El-Shanti, Y. Al-Sarraj, R. Taha, H. Khair, Z. Hamed, I. Shafeeullah, B. Saleh, J. Alami.

963T   Prenatal somatic overgrowth and postnatal growth deceleration in Pallister Killian syndrome: Phenotypic and mechanistic overlap with Beckwith-Wiedemann syndrome. K. Izumi, M. Kaur, L. Conlin, N. Spinner, A. Wilkens, Z. Zhang, I. Krantz.

964T   VCP mutations associated with varied phenotypes in the dominant and homozygous state. V. Kimonis, A. Nalbandian, E. Dec, S. Donkervoort, H. Yin, G. D. Watts, B. Martin, C. Smith, V. Caiozzo, A. Wang, T. Mozaffar, J. Weiss.

965T   19p13.3 Pure duplication. K. Kurosawa, A. Ishikawa, K. Enomoto, M. Tominaga, N. Furuya, M. Masuno.

966T   Clinical characteristics of chromosome 18 deletion anomalies. J. Lin, S. Wang, F. Lo.

967T   Duplication of GPC3 in the boy with growth retardation and developmental delay. N. Nakashima, T. Yamagata, M. Saito, Y. Nozaki, M. Y. Momoi.

968T   Interstitial duplication of 1p13.3-p22.3: Report of a patient and review of the literature. I. Ohashi, T. Sasaki, T. Kusaka, Y. Shimanouchi, M. Masuno, S. Itoh.

969T   MLPA and cytogenetic microarray: Utility in evaluation of mental retardation. S. Phadke, V. Boggula, R. Kumar.

970T   Identification of deletions in patients with cleft palate and/or velopharyngeal insufficiency without a definitive diagnosis. L. A. Ribeiro-Bicudo, R. M. C. Sandri-Souza, N. C. Lorenco, R. M. Zechi-Ceide.

971T   Analphoid supernumerary marker chromosome characterized by high resolution array: A de novo 3q26.32-q29 duplication in a child with pigmentary mosaicism of Ito. C. E. Steiner, K. S. Cunha, M. Simioni, T. A. P. Vieira, V. L. Gil-da-Silva-Lopes, M. B. Puzzi.

972T   Clinical features in a 4-year-old male with trisomy 8p23.3p11.1. D. L. Sternen, J. Conta, S. E. Wallace.

973T   A long-term survivor with double aneuploidy of trisomy 18 and Klinefelter syndrome (48,XXY,+18): A successful shift from neonatal intensive care to home care. Y. Ushiroda, M. Doi, H. Motomura, A. Yamashita, A. Yanai, H. Kuniba, H. Moriuchi.

974T   Challenges in the clinical interpretation of de novo single gene deletions detected by high resolution genomic microarray screening. N. Van der Aa, G. Vandeweyer, F. Kooy.

975T   Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome caused by 14q13.3 deletion not encompassing NKX2-1: First reported case. C. P. Barnett, S. M. Kirwin, K. M. B. Vinette, W. Waters, J. Mencel.

976T   Reproductive fitness in adults with 22q11.2 deletion syndrome. G. Costain, E. W. C. Chow, C. K. Silversides, A. S. Bassett.

977T   A 2.42 Mb interstitial deletion at 12p13.1p13.2 in a female infant with neural tube defect and distinct dysmorphic features. J. Fahrner, E. Wohler, C. Dinsmore, L. Henderson, D. Batista, T. Wang.

978T   Trisomy X and 7p15.2-p21.1 deletion in a patient with cleft lip and hand-foot-genital syndrome. A. N. Filose, G. E. Tiller.

979T   Preliminary analyses of de novo CNVs and sequence variation in the DDD project. M. Hurles, Deciphering Developmental Disorders Project.

980T   The patterns of deletion at chromosome 15q11q13 defined with array comparative genomic hybridization in Korean Prader-Willi/Angelman syndrome patients. H. W. Kim, S. Y. Shin, E. J. Seo, M. Hong, G. H. Kim, J. Y. Lee, H. W. Yoo.

981T   The smallest region of deletion on 3p25 in a patient with 3p deletion syndrome. I. Peltekova, A. MacDonald, C. Armour.

982T   A new case of interstitial 6p22.3 chromosome deletion: Confirmation of the minimal critical region. L. Pinson, A. Schneider, M. Tournaire, M. Girard, P. Blanchet, C. Coubes, D. Genevieve, P. Sarda, G. Lefort, F. Pellestor, S. Taviaux, E. Haquet, J. Puechberty.

983T   Phenotypic variability in individuals with chromosome 15q11.2 microdeletion. J. Ranells, P. Newkirk, T. Ferlita.

984T   An 81kb deletion detected by aCGH in a patient with Rubinstein-Taybi syndrome. E. C. Tan, A. H. M. Lai, E. C. P. Lim, J. S. H. Ng, M. S. Brett.

985T   A Rubinstein-Taybi syndrome patient with partial deletion of the CREB binding protein gene. E. Wohler, A. Bytyci, L. Henderson, E. Germain-Lee, J. Hoover-Fong, D. A. S. Batista.

986T   Severe aortic stenosis in a child with Joubert syndrome and related disorders: A case report and review of congenital heart defects reported in the human ciliopathies. S. C. Bowdin, N. Karp, L. Grosse-Wortmann, S. Blaser.

987T   Characteristics of kidney and liver disease in 38 patients with Joubert syndrome and related disorders. J. De Dios, T. Vilboux, K. Daryanani, I. B. Turkbey, P. Choyke, D. Doherty, I. Glass, M. Parisi, J. Bryant, M. Huizing, T. Heller, W. A. Gahl, M. Gunay-Aygun.

988T   New syndrome?: Situs inversus totalis and infantile spasm and generalized hypotonia with severe global developmental delay. B. Hashemi, K. Siriwardena, S. Jain, M. Moharir, O. Bar-Yosef, A. Ali, D. Chitayat.

989T   Confirmation of the chromosomal microarray as a first-tier clinical diagnostic test for individuals with DD/ID and MCA. A. Battaglia, A. Novelli, L. Bernardini, T. Filippi, V. Doccini, J. C. Carey.

990T   1p36.2 CNVs cause Setleis syndrome, a focal facial dermal dysplasia. R. J. Desnick, A. Yang, L. Edelmann, L. Liang, I. Nazarenko, A. Ma'ayan, B. E. Blessing, V. K. Proud, J. E. Ming, J. A. Rosenfled, C. Cadilla, A. R. Norby, D. D. Weaver.

991T   Phenotypic heterogeneity in a family segregating two different NRXN1 deletions. L. B. Henderson, C. D. Applegate, R. L. McClellan, H. T. Bjornsson, S. A. Morsey, D. A. S. Batista, S. Naidu, A. Hamosh.

992T   Clinical dilemma in interpretation of microaaray results: Report on series of inherited copy number gain and loss with variable expression. J. Hiemenga, K. Withrow, C. Forgeng, V. Kirkland, M. Jaworski, J. Bodurtha, A. Pandya.

993T   Alström syndrome in Taiwan: Familial variable expression of metabolic abnormalities and revisit of syndromic obesity. J. Hou.

994T   Array comparative genomic hybridization in diagnosing Mendelian disorders: How far do we go and when do we stop?! A. Tsai, D. Klepacka, C. Walton.

995T   Using a combination of MLPA kits to detect microdeletion and subtelomeric rearrangement in Iranian patients with mental retardation. S. Zeinali, M. S. Falah, T. Pourmostafaei, A. Bidmeshkipour, H. Bagherian, Z. Sharifi, N. Khazaei, M. Mohammadi, F. Fardanesh, F. Mohammadi, S. Amini, P. Foroghi, S. Malvandi, M. Masoudifard, S. Kianfar, A. Sarhaddi.

996T   Predictors of adaptive functioning in adults with 22q11.2 deletion syndrome. A. S. Bassett, N. Butcher, A. Ho, G. Costain, D. Young, E. W. C. Chow.

997T   Unique phenotype associated with a novel partial chromosome 5p deletion/duplication. L. Brick, J. M. Meck, S. Aradhya, C. Li.

998T   Case report of a newborn with ambiguous genitalia and mosaicism for the SRY locus. C. Bupp, J. H. Hersch, J. J. Wetherbee-Landis, C. M. Rajakaruna, K. M. Goodin.

999T   Mosaic dup/del 6q22.1q22.2 including COL10A1 in a patient with syndromic developmental delay and symptoms of osteogenesis imperfecta. I. Filges, B. Roethlisberger, P. Dill, P. Weber, A. R. Huber, F. Wenzel, P. Miny.

1000T   Renal tubular dysgenesis in two siblings with novel ACE mutations. A. Alfares, N. Braverman, C. Antignac, K. B. Brosnihan, V. Moriničre, G. Gubler, R. Vanneste, R. Gosselin, C. Bernard, M. Bitzan.

1001T   Central choroidal areolar dystrophy type 2: Genotype-phenotype correlation. L. Gabriel, M. Avila.

1002T   Novel de novo AVPR2 gene mutation causing CNDI in Swedish patient. S. S. Joshi, J. H. Christensen, P. Brandstrom, J. Knudsen, N. Gregersen, S. Rittig.

1003T   Wide phenotypic variability of Kabuki syndrome with MLL2 mutations. K. Kosaki, R. Tanaka, R. Kosaki, K. Uchida, C. Torii, T. Ishi, T. Sato, H. Yoshihashi.

1004T   Trichohepatoenteric syndrome — Phenotypic variability and molecular characterization. U. H. Kotecha, R. D. Puri, S. Movva, I. C. Verma.

1005T   Evaluation of three automated mutation detection software programs for clinical diagnostic sequencing. J. Machado, N. Persaud, L. Han, M. Eliou, P. Ray, T. Stockley.

1006T   Cornelia de Lange syndrome: A five year follow-up and renal lithiasis. M. A. Aceves-Aceves, I. M. Salazar-Dávalos, D. García-Cruz, A. Moreno-Andrade, M. G. González-Mercado, N. O. Dávalos, J. A. Cruz-Ramos, I. P. Dávalos.

1007T   Neu-Laxova syndrome and congenital anomalies of the spectrum of this syndrome in a highly inbred family: Could these anomalies represent clinical manifestations in heterozygotes? D. Cavalcanti, M. T. Sakata, F. Poletta, J. Lopez-Camelo, C. Rosenberg, E. E. Castilla.

1008T   Genome-wide DNA methylation profiling of CpG islands in hypospadias. S. Choudhry, K. Beckman, L. Qiao, H. Bengtsson, M. Segal, L. Baskin.

1009T   A patient with marked hypoplasia of the thorax, split-feet, polysyndactyly, renal defect and malrotation of intestine. K. Haraguchi, M. Doi, H. Kuniba, M. Sasaki, T. Kosaka, K. Mochizuki, T. Tokunaga, M. Obatake, A. Yamashita, A. Yanai, H. Motomura, H. Moriuchi.

1010T   16p13.11p12.3 Duplication in a girl with multiple congenital anomalies and developmental delay. E. Leon, S. Lewin.

1011T   Sirenomelia: A tale of four South African mermaids. S. Moosa, A. Krause.

1012T   Natural history study of arthrogryposis multiplex congenita, amyoplasia type. T. Nichols, S. S. Hashmi, P. Mancias, M. Raia, G. Gogola, J. T. Hecht.

1013T   A novel mutation in GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. E. Nishi, S. Mizuno, T. Yamamoto.

1014T   Particular clinical, psychologic and behavioral features identified in Prader-Willi syndrome. C. Rusu, E. Braha, M. Volosciuc, I. Ivanov, M. Gramescu, V. Gorduza, M. Puiu, D. Dan.

1015T   Unusual multiple congenital anomalies in a newborn boy of complex etiology: Mosaic 45,XY/45,X, duplication Xp22.33 involving SHOX, duplication 15q11.2 and 18q22.2-22.3, and history of maternal liver failure due to paracetamol, illicit drugs and alcoholism abuse. S. Sampath, J. J. Gershanik, Y. Lacassie.

1016T   Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: A new case report. C. Sergi, J. Gekas, D. Kamnasaran.

1017T   Inherited subtelomeric 14qdel10pdup and 14qdup10pdel in mentally retarded family members with different phenotypes, revealed reciprocal 14q10p translocation in their fathers. V. Adir, E. Shahak, J. Levitatz, N. Ekhilevitch, H. Bar-El, Z. U. Borochowitz.

1018T   High frequency of copy number variants in the chromosome 11p15.5 region in patients with Beckwith-Wiedemann syndrome. B. Baskin, S. Choufani, C. Shuman, N. Parkinson, E. Lemyre, P. N. Ray, R. Weksberg.

1019T   Analysis of CNVs of the BP1-BP2 region (15q11.2) suggests mild pathogenicity in autism families. N. Kommu, S. Sanders, E. Kaminsky, P. Stankiewicz, C. Martin, A. Patel, J. Wiszniewska, A. Beaudet.

1020T   Copy number variants in cerebral palsy. G. McMichael, A. Moreno-De-Luca, A. MacLennan, J. Gecz, S. Girirajan, E. Eichler, C. Martin.

1021T   Microdeletion 22q11.2 in a patient with Goldenhar syndrome. S. F. Oliveira, P. A. C. Santos, E. L. Freitras, H. P. N. Safatle, C. Rosenberg, I. Ferrari, J. F. Mazzeu.

1022T   Suspected gonadal mosaicism as a cause of Gorlin syndrome. E. Stattin, P. Lundberg, I. Golovleva.

1023T   Angelman syndrome case report with hypothyroidism. C. E. Monterrubio Ledezma, L. Bobadilla-Morales, L. J. Rodríguez Casillas, H. J. Pimentel Gutiérrez, J. R. Corona Rivera, A. Corona Rivera.

1024T   Health-related quality of life in patients with cardio-facio-cutaneous syndrome. S. Sottile, A. Kwan, P. Magoulas, K. Rauen.

1025T   A new locus for autosomal dominant renal insufficiency associated with anemia and growth retardation. B. Loeys, J. Huyghe, G. Van Camp, E. Matthys, E. Sys, M. Renard, A. Raes, J. Vandewalle, C. Van Hemelrijk, G. Mortier, L. Van Laer.

1026T   MEF2C mutations are a frequent cause of Rett- or Angelman syndrome like neurodevelopmental disorders. A. Rauch, D. Bartholdi, C. M. Rueegger, M. Zweier, C. Zweier, E. K. Bijlsma, A. van Haeringen, W. Reardon, M. Zollino, A. Baumer.

1027T   3p13p14.1 Deletion: A new microdeletional syndrome associated with syndromic distal arthrogryposis. J. Thevenon, K. Dieterich, P. Callier, M. Francoise, M. Splitt, S. Kjaergaard, K. Neas, J. Dixon, T. L. Dahm, F. Huet, C. Ragon, A. L. Boidron-Mosca, L. Duplomb, M. H. Aubriot-Lorton, F. Mugneret, N. Monnier, J. Lunardi, L. Faivre, P. S. Jouk, C. Thauvin-Robinet.

1028T   An unusual case of developmental delay with plantar lipomatosis. L. Diefendorf, J. Humberson.

1029T   Deletion of TWIST1 in a patient with Duane-radial ray syndrome. S. Jougheh Doust, J. So.

1030T   Familial cosegregation of Coffin-Lowry syndrome inherited from the mother and Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father: A diagnostic odyssey. Y. Lacassie, S. Sampath.

1031T   Genetics of Kabuki syndrome: MLL2 mutational spectrum in 100 KS patients. A. D. C. Paulussen, M. J. Blok, C. E. van Roozendaal, D. Tserpelis, C. Posma-Velter, R. Vijzelaar, J. Schrander, Y. Detisch, C. T. R. M. Schrander-Stumpel, A. P. A. Stegmann, H. J. Smeets.

1032T   Noonan syndrome and other genetically related syndromes diagnosed by a custom multiplex mutation panel (CGC Mutation Panel). P. Tavares, A. Lopes, L. Lameiras, L. Dias, J. Sá, P. Rendeiro, A. Palmeiro.

1033T   Clinical and molecular analysis of patients with neurocardiofaciocutaneous syndromes fromTurkey. P. O. Şimşek Kiper, Y. Alanay, B. Gülhan, C. Lissewski, D. Türkyilmaz, D. Alehan, M. Çetin, G. E. Utine, M. Zenker, K. Boduroğlu.

1034T   A novel point mutation in the STS gene in a family with X-linked recessive ichthyosis. R. Badilla-Porras, L. Dupuis, R. Mendoza-Londono.

1035T   Clinical course of Noonan-like syndrome with loose anagen hair (NS/LAH, MIM 607721) in individuals carrying mutations of SHOC2. D. Bartholdi, M. Lang-Muritano, E. J. Schoenle, A. Schinzel, M. Zenker, A. Rauch.

1036T   Computer-assisted estimation of the prevalence of dysmorphic features in the general population. L. Basel-Vanagaite, L. Karlinsky, L. Wolf, M. Shohat.

1037T   A Simpson-Golabi-Behmel patient with severe neonatal liver involvment. B. Demeer, D. Djeddi, F. Lacaille, G. Morin, G. Jedraszak, J. Micheli, R. Rhazlane, S. Lanta, F. Amram, M.-P. Moizart, M. Mathieu.


Genetic Counseling and Clinical Testing

 

1038T   Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: Comprehensive mutational search in a single platform. B. Lim, J. Chae, K. Kim, S. Lee, J. Kim, J. Seo.

1039T   Dynamics of genetic polymorphisms linked to hemophilia A gene (F8) in the Brazilian population. J. D. Massaro, C. E. V. Wiezel, C. T. Mendes-Junior, M. R. Luizon, A. L. Simőes.

1040T   Molecular analysis by an individual diagnosed with autosomal recessive polycystic kidney disease. M. Nagel, S. Nagorka, M. Brzeska.

1041T   Hemophilia A diagnose with F8Int18BclI SNP and DXS 1108 markers in Brazilian population. F. A. Saiki, J. D. Massaro, A. L. Simőes.

1042T   A comparative study about death anxiety with familial amyloidotic polyneuropathy familiars (caregivers). P.Isabel. Santos.

1043T   A comparison of enrichment techniques for clinical next-generation sequencing of intellectual disability, early infantile epilepsy and congenital brain malformations. S. Topper, V. Nelakuditi, M. A. Dempsey, S. Das.

1044T   A c.1372C→T mutation found in TSC2 gene in a TSC-affected family revealed that it is less likely to account for mental retardation. T. Tsai, S. Lin, D. Chu.

1045T   Ion Torrent as a potential platform for molecular diagnosis. X. Wang, H. Wang, D. Muzny, I. Newsham, Y. Wu, C. Buhay, H. Dinh, R. Gibbs, R. Chen.

1046T   Genetic counseling: An analysis of awareness, opportunities and accessibility in India at the undergraduate level. A. Neogi.

1047T   R143Q mutation of the POU1F1 gene, underlying combined pituitary hormone deficiency. A. Aykut, S. Ozen, D. Goksen, H. Onay, O. Cogulu, S. Darcan, F. Ozkinay.

1048T   Glucose transporter type I deficiency syndrome epilepsy phenotypes and alternative therapies: Implications for genetic testing, counseling, and treatment from the world’s largest cohort. A. W. Pong, K. Engelstad, B. Geary, A. Natarajan, H. Yang, D. C. De Vivo.

1049T   Developing a next-generation sequencing gene panel for molecular diagnosis of genetic epilepsy. F. Xia, P. Stankiewicz, M. Vatta, C. M. Eng, Y. Yang.

1050T   Parental attitudes toward the disclosure of individual genotype results for children enrolled in a gene discovery protocol. J. C. Sapp, D. A. Dong, B. B. Biesecker, L. G. Biesecker.

1051T   Fragile X AGG genotyping reclassifies risk for expansion in intermediate and small premutation carriers: Results of a multicenter study of 469 mother-child transmissions. S. L. Nolin, E. Allen, A. Glicksman, S. L. Sherman, E. Berry-Kravis, F. Tassone, C. Yrigollen, A. Cronister, M. Jodah, N. Ersalesi, W. T. Brown, R. Shroff, S. Sah, G. J. Latham, A. G. Hadd.

1052T   Screening for LHON mutations in Brazilian patients. E. L. Sartorato, P. M. A. D. Miranda, M. S. A. Fernandes, A. T. Maciel-Guerra.

1053T   How do young adults with Leber congential amaurosis perceive gene therapy? M. P. Napier, J. E. Sutherland, M. A. Day, R. Z. Hayeems, D. Chitayat, C. Shuman, E. Héon.

1054T Unprogrammed presentation number

1055T   Using next-generation sequencing as a clinical diagnostic tool for autism. T. Brandt, O. Jabado, S. Yoon, V. Makarov, Z. Peralta, R. Kornreich, J. Buxbaum, L. Edelmann.

1056T   Novel mutations in Iranian Rett syndrome patients. M. Dehghan Manshadi, S. Dadgar, O. Ariyani, P. Karimzadeh, Sh. Salehpour, H. Tonkaboni, M. Houshmand.

1057T   Creating community dialogues: Exploring public opinions about genetics research in Newfoundland Labrador. E. Dicks, H. Etchegary, J. Green, D. Pullman, C. Street, P. Parfrey.

1058T   Validation of open-source colorectal cancer risk assessment software compatible with the U.S. Surgeon General's My Family Health Portrait tool. W. G. Feero, F. M. Facio, E. Glogowski, H. Hampel, J. Stopfer, A. Linn, D. Barton, L. G. Biesecker.

1059T   ACTN3 R577X genotype and sport performance in Roma/Gypsies. D. Gabrikova, D. Hronska, S. Macekova, J. Bernasovska, A. Sovicova, A. Bozikova.

1060T   Clinical genomics data infrastructure and ClinVar. U. Geigenmüller, D. Maglott, S. Aradhya, S. Bale, P. R. Billings, C. Braastad, M. Eisenberg, M. J. Ferber, K. Fuentes Fajardo, M. Hegde, B. Kattman, S. F. Kingsmore, I. S. Kohane, D. H. Ledbetter, K. Lee, E. Lyon, C. Lese Martin, N. A. Miller, J. Ostell, J. Paschall, H. L. Rehm, G. Riley, C. J. Saunders, S. T. Sherry, E. D. Trautman, V. Zvereff, D. M. Margulies.

1061T   Assessment of clinical usefulness of genetic diagnosis in neurology department of hospital. Y. Ichikawa, H. Ishiura, J. Mitsui, T. Matsukawa, Y. Takahashi, H. Naruse, M. Taira, S. Tsuji, J. Goto.

1062T   A nine-year experience with the genetic testing of the rare disease acrodermatitis enteropathica. S. Küry, S. Schmitt, M. Giraud, C. Tesson, F. Airaud, B. Dreno, M. Kharfi, S. Bezieu.

1063T   Establishment and application of a standard diagnostic procedure for epidermolysis bullosa in China. Z. Lin, Q. Chen, M. Lee, Y. Tan, Y. Yang.

1064T   The Genetic Testing Registry: Genetic tests and more. D. Maglott, B. L. Kattman, A. Malheiro, J. Lee, M. Ovetsky, V. Hem, V. Gorelenkov, W. Rubinstein, C. Fomous, J. Ostell.

1065T   EuroGentest Clinical Utility Gene Cards: Concise guidelines for genetic testing in 300 diseases. J. Schmidtke, A. Dierking.

1066T   Patients’ feelings and experience towards predictive genetic testing for primary open angle glaucoma. E. Souzeau, K. Burdon, A. Dubowsky, J. E. Craig.

1067T   Tracing ancestral depth of families diagnosed with hereditary gastrointestinal polyps and cancers. T. M. Tuohy, M. C. Done, N. Sargent, D. W. Neklason, R. W. Burt.

1068T   Whole genome sequencing in clinical practice: The first year. D. Dimmock, R. Veith, M. Gutzeit, S. Leuthner, R. Willoughby, T. May, M. Tschannen, T. Hambuch, P. North, H. Jacob, E. Worthey, D. Bick.


Molecular Basis of Mendelian Disorders

 

1069T   THM1-null mouse model of ciliopathy manifests renal cysts, retinal defects and obesity. P. V. Tran, D. R. Beier.

1070T   Expansion of phenotypic characteristics of NPHP5-related disease. A. Vincent, D. Chitayat, R. Weksberg, E. Heon.

1071T   Exome sequencing to identify genetic causes of primary ciliary dyskinesia with outer dynein arms defects. M. A. Zariwala, M. W. Leigh, L. E. Ostrowski, S. D. Davis, J. S. Berg, L. Huang, W. Yin, J. L. Carson, M. Hazucha, E. H. Turner, A. MacKenzie, M. Bamshad, D. A. Nickerson, J. Shendure, M. R. Knowles, Genetic Disorders of Mucociliary Clearance Consortium.

1072T   Disruption of CBP gene and decreased expression of CREB, NFκBp65, c-Jun and c-Fos, BCL2 and c-MYC in a case of Rubinstein-Taybi syndrome. L. D. Kulikowski, L. C. Torres, P. L. Ramos, S. M. M. Sugayama, C. A. Moreira-Filho, M. Carneiro-Sampaio.

1073T   Exploring the intrinsic functional gene dose of recessive mendelian mutations with a computational visualizing approach. L. Li, M. McGuffin, W. Foulkes.

1074T   Clinical and molecular characterization of mircovillous inclusion disease in four Arab families. B. Meyer, D. Monies, H. Al Zaidan, A. Mehaidib, M. Al Edreesi, E. Naim, O. Khashoggi, M. Faqih, Z. Rahbeeni.

1075T   NPHS2, NPHS1 and WT1 mutations in Indian children with initial steroid resistant nephrotic syndrome. S. Sharma, A. K. Dinda, A. Bagga, M. Kabra.

1076T   Exome sequencing and analysis of split-hand/foot malformation and long-bone deficiency families with non-Medelian inheritance. R. Uppala, U. Ratnamala, M. Naveed, M. T. Al-Ali, N. Al-Khaja, A. Bashamboo, K. McElreavey, S. K. Nath.

1077T   Gene regulatory mutations as a cause of human limb malformations. J. E. VanderMeer, T. Laurell, A. M. Wenger, G. Bejerano, G. Grigelioniene, A. Nordenskjold, M. Arner, A. Nordgren, N. Ahituv.

1078T   Pitx1 haploinsufficiency causes clubfoot in humans and mice. D. M. Alvarado, K. McCall, H. Aferol, M. J. Silva, J. R. Garbow, W. M. Spees, T. Patel, M. Siegel, M. B. Dobbs, C. A. Gurnett.

1079T   Aberrant firing of replication origins explains nonrecurrent rearrangements in the human genome. A. Ankala, A. R. Hegde, A. Meka, E. L. H. Chin, S. H. Askree, S. Bhide, M. R. Hegde.

1080T   Analysis of X chromosome copy number variations in Brazilian men with idiopathic intellectual disability. N. Fintelman-Rodrigues, M. Campos, Jr., J. M. Santos, M. M. G. Pimentel, C. B. Santos-Rebouças.

1081T   Molecular characterization of autosomal recessive hyper IgE syndrome in Saudi Arabia. A. Hawwari, Z. Alsum, S. Al-Hisi, E. Borrero, H. Khalak, O. Alsmadi, R. Arnaout, A. Al-ghonaium, S. Al-Muhsen, H. Al-Dhekri, B. Al-Saud, H. Al-Mousa.

1082T   De novo copy number variants associated to intellectual disability have a paternal origin and age bias. J. Y. Hehir-Kwa, B. Rodríguez-Santiago, L. E. Vissers, N. de Leeuw, R. Pfundt, L. A. Pérez-Jurado, J. A. Veltman.

1083T Unprogrammed presentation number

1084T   Mitotic microhomology-mediated replication-based mechanisms underly non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain. H. Verdin, B. D'haene, Y. Novikova, D. Beysen, P. Lapunzina, J. Nevado, C. Carvalho, J. R. Lupski, B. Menten, E. De Baere.

1085T   A de novo paradigm for intellectual disability. L. Vissers, J. de Ligt, B. van Bon, C. Gilissen, M. Willemsen, I. Janssen, J. Schuurs-Hoeijmakers, M. Steehouwer, W. Nillesen, P. de Vries, K. van der Donk, B. van Lier, P. Arts, H. Scheffer, N. Wieskamp, M. del Rosario, A. de Brouwer, A. Hoischen, T. Kleefstra, B. de Vries, H. Brunner, J. Veltman.

1086T   A cell-based translocation assay system for screening plant extracts for fibroblast growth factor receptor 3 (FGFR3) modulators: Therapy of FGFR3-related skeletal dysplasias and cancers. Y. Lee, C. Tai, C. Ko, R. Wu, K. King, Y. Chen.

1087T   Molecular analysis of 246 patients with oculocutaneous albinism. B. Arveiler, E. Lasseaux, C. Rooryck-Thambo, A. Rouault, D. Cailley, C. Plaisant, D. Lacombe, A. Taieb, F. Morice-Picard.

1088T   The LMNA c. 1968+5G>C transversion leads to progerin generation and Hutchinson-Gilford progeria syndrome. V. Benoit, P. Hilbert, I. Maystadt, C. Gaspard, S. Castedo, T. Kay.

1089T   Novel EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis. A. De Luca, M. C. D'Asdia, M. Magliozzi, R. Ferese, F. Consoli, V. Guida, L. Bernardini, M. C. Digilio, B. Marino, B. Dallapiccola, I. Torrente.

1090T   Screening for microdeletion/duplication syndromes and subtelomeric deletion/duplications in patients with unexplained mental retardation using MLPA analysis. F. B. Essop, C. A. Robinson, A. Krause.

1091T   Detection of inherited mutations for Alport syndrome using next-generation sequencing. P. Hilbert, M. Lizon, D. Goossens, J. Del-Favero, K. Dahan.

1092T   Spinal muscular atrophy in Singapore: An eleven-year experience in a diagnostic laboratory. H. Y. Law, I. S. L. Ng, G. P. Tan, C. S. Yoon, E. S. Tan, S. S. Jamuar, A. H. M. Lai.

1093T   Molecular screening of ichthyosis vulgaris in Iranian patients. S. Matoo, N. Hatamnejadian, A. Yasari Mazandarani, A. Tavakoli Tameh, B. Sedaghati Khayat, M. Mahdavi, SH. Abadpour, A. Ebrahimi.

1094T   Identification of 15 novel mutations in Sotos syndrome. S. Boulanger, M. D'amico, A. Destree, I. Maystadt, D. Lederer, H. Van Esch, J. Van Den Ende, N. Van Der Aa, K. Segers, P. Hilbert.

1095T   Detection of a mutation in Lenz microphthalmia family by exome sequencing. T. Kaname, K. Yanagi, Y. Muramatsu, T. Tohma, H. Hanafusa, K. Morita, S. Ikematsu, Y. Itagaki, K. Kurosawa, S. Mizuno, K. Yoshiura, K. Naritomi.

1096T   Homozygous and heterozygous IGFALS mutations are detected in a significant fraction of patients with primary IGF-I deficiency and postnatal growth deficit. A. Campos-Barros, S. de Frutos, E. Barroso, A. Gómez, R. Gracia-Bouthelier, J. Sánchez del Pozo, E. Gallego, K. E. Heath.

1097T   TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. H. Cangul, O. Tarim, Z. Aycan, H. Saglam, T. Yakut, Y. Cesur, E. Bober, G. A. Kirby, M. Karkucak, E. Eren, V. Bas, S. Cetinkaya, K. Demir, S. A. Yuca, S. Pasha, J. R. Forman, M. Kendall, A. Karthikeyan, N. Shaw, J. Kirk, W. Hogler, T. G. Barrett, E. R. Maher.

1098T   Short stature and mutations in the ghrelin receptor (GHSR) gene. M. Legendre, J. Pantel, C. Lazea, S. Cabrol, N. Collot, F. Dastot, P. Duquesnoy, L. Hilal, A. Kadiri, C. Dupuis, S. Nivot, S. Rose, A. Rothenbuhler, M.-L. Sobrier, M.-P. Vie-Luton, Y. Le Bouc, M. Polak, J. Leger, S. Amselem.

1099T   Nonclassic thyrotropin resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. S. Narumi, K. Nagasaki, T. Ishii, K. Muroya, Y. Asakura, M. Adachi, T. Hasegawa.

1100T   Whole exome sequencing in SCN1A-negative Dravet syndrome reveals novel candidate genes and suggests genetic heterogeneity. G. L. Carvill, S. C. Yendle, J. McMahon, J. Cook, S. F. Berkovic, I. E. Scheffer, H. C. Mefford.

1101T   Refinement of the benign familial infantile seizures chromosome 16 epilepsy locus in a large Utah family. N. Singh, R. Mao, E. Lyon, S. Shetty, M. Dixon, M. Leppert, F. Filloux.

1102T   Exclusion of known lymphedema genes in two families with severe congenital lymphedema. M. Amyere, S. Greenberger, D. Chitayat, E. Pras, K. Chong, T. Uster, H. Reznik-Wolf, D. Marek-Yagel, L. Boon, M. Vikkula.

1103T   Genetic linkage analysis to identify susceptibility loci for primary biliary cirrhosis in British Columbia’s First Nations peoples. S. Asuri, S. McIntosh, L. Fields, L. Arbour.

1104T   Linkage and homozygosity mapping identifies a 14 bp deletion in CHX10 in families with microphthalmia and brain atrophy. K. K. Selmer, G. D. Gilfillan, P. Strřmme, O. J. Kanavin, T. Hughes, K. Brandal, R. Lyle, D. E. Undlien.

1105T   Role of Fragile X related proteins in mammalian circadian behaviors and glucose homeostasis. J. Lumaban, D. Nelson.

1106T   Evaluation of a PCR-based assay using sizing PCR in combination with CGG repeat primed PCR for FMR1 screening in a clinical setting. K. Storm, N. Peeters, W. Wuyts, F. Kooy.

1107T   Functional characterization of novel variants in Noonan syndrome. J. J. Lee, B. H. Lee, J. M. Kim, G. H. Kim, J. H. Choi, H. W. Yoo.

1108T   Congenital diarrheal disorders: Translating whole exome sequencing to the clinic. M. Yourshaw, D. Liu, S. F. Nelson, M. Martín.

1109T   Demonstration of the interactions of genes and environment in determining the phenotype of a genetic disease using a mouse model of a fatty acid oxidation disorder. W. Wang, A.-W. Mohsen, J. Palmfeldt, M. Barmada, Y. Wang, N. Gregersen, J. Vockley.

1110T   Identification of a novel gene for autosomal dominant high-grade myopia using whole exome sequencing. T. Young, A. Powell, T. Klemm, S. Rozen, V. Soler, T. Yanovitch, E. Nading, F. Hawthorne, L. Goh, K.-N. Tran Viet.

1111T   Interferon gamma impact on epidermolysis bullosa simplex in patients with keratin 14 mutations. T. Farez, M. Bchetnia, M. Tremblay, G. Leclerc, A. Dupérée, J. Powell, C. McCuaig, C. Morin, V. Legendre-Guillemin, C. Laprise.

1112T   Potential therapeutic target of 185delAG, 5382insC, as two types of mutations in BRCA1, in breast cancer. H. Fiuji, A. Avan, M. Maftouh, R. Mirhafez, A. Avan.

1113T   Deletion of PORCN in mice confirms that defective WNT signaling causes the features of human Goltz syndrome (focal dermal hypoplasia). W. Liu, T. Shave, X. Wang, A. Balasa, S. Wen, H. Nguyen, I. Van den Veyver.

1114T   Increased oxidative stress in Nijmegen breakage syndrome results from PARP hyperactivation after DNA damage. M. Digweed, H. Krenzlin, I. Demuth, B. Salewsky.

1115T   Dominant mutations in RP1L1 are responsible for occult macular dystrophy (Miyake's disease). T. Iwata, M. Akahori, K. Tsunoda, Y. Miyake, Y. Fukuda, H. Ishiura, S. Tsuji, T. Usui, T. Hatase, M. Nakamura, H. Ohde.

1116T   Exome sequencing in patients with deafness, onycho-osteodystrophy, and mental retardation syndrome. D. Kasperaviciute, A. Tostevin, V. Plagnol, S. Mead, S. Nampoothiri, E. Blair, H. Cross, R. C. M. Hennekam, S. M. Sisodiya.

1117T   Mapping of a lethal disorder with pulmonary hypertension and limb deficiency. D. C. Lynch, K. M. Boycott, D. E. Bulman, J. S. Parboosingh, A. M. Innes.

1118T   Whole exome sequencing in a consanguineous pedigree reveals 2 novel RYR1 mutations in patients with complete external ophthalmoplegia. S. Shaaban, C. Andrews, J. Demer, E. Engle.

1119T   PKD1 and PKD2 gene variation in Italian patients affected by autosomal dominant polycystic kidney disease. P. Carrera, F. Rigo, S. Calzavara, C. Montrasio, P. Messa, A. Edefonti, R. Magistroni, F. Scolari, P. Manunta, A. Boletta, M. Ferrari.

1120T   A novel nucleotide change in the intron 12 of the SPAST gene might produce an aberrant protein transcript. A. Magariello, M. Liguori, A. Patitucci, L. Citrigno, R. Mazzei, FL. Conforti, C. Ungaro, W. Sproviero, D. Bosco, M. Plastino, A. Gambardella, M. Muglia.

1121T   Assay design for detection of the SMN1 "2+0" genotype in carriers of spinal muscular atrophy. G. Pont-Kingdon, A. Wilson, E. Lyon.

1122T   Molecular analysis of ZEB2 responsible for the Mowat-Wilson syndrome. Y. Yamada, K. Yamada, S. Mizuno, E. Nishi, N. Ishihara, N. Akimura, K. Matsuda, N. Okamoto, Y. Hiraki, N. Wakamatsu.

1123T   Genetic profile for patients with familial hemophagocytic lymphohistiocytosis type 5. K. Zhang, J. A. Johnson, D. Kissel, U. Zur Stadt, A. H. Filipovich.

1124T   Comprehensive analysis of novel disease-causing copy number variants in syndromic obesity. C. S. D'Angelo, C. P. Koiffmann.

1125T   New gene variants in idiopathic scoliosis. K. F. Fendri, S. A. P. Patten, P. E. Edery, F. M. Moldovan.

1126T   Identification of novel genes for frontotemporal lobar degeneration using whole genome sequencing. I. Gijselinck, S. Philtjens, T. Van Langenhove, S. Engelborghs, J. van der Zee, R. Van Den Berghe, P. Santens, G. Maes, K. Peeters, M. Mattheijssens, P. P. De Deyn, C. Van Broeckhoven, M. Cruts.

1127T   Whole-genome sequencing to identify disease causing mutations in hereditary sensory and autonomic neuropathy. C. Gonzaga-Jauregui, W. Wiszniewski, J. Reid, I. Kurth, R. A. Gibbs, J. R. Lupski.

1128T   High-throughput sequencing for causal gene discovery in Mendelian diseases. S. N. Jhangiani, M. N. Bainbridge, D. R. Murdock, F. J. Probst, J. L. Jeffries, I. F. Newsham, Y. Q. Wu, M. Wang, D. M. Muzny, R. A. Gibbs.

1129T   Exome sequencing of four dyschromatosis universalis hereditaria patients and one unaffected person from a Chinese pedigree. Y. Li, H. Liu, H. Liany, F. Zhang, J. Liu.

1130T   Whole exome sequencing in a single nuclear family finds novel compound heterozygous changes in KCTD7 causing late infancy-childhood neurodegeneration. T. C. Markello, D. A. Adams, L. Wolfe, M. Sincan, K. Fuentes Fajardo, M. P. Jones, U. Harper, S. Chandrasekharappa, C. J. Tifft, C. Boerkoel, W. A. Gahl, NISC Comparative Sequencing Program.

1131T   Mutations in the amiloride-sensitive epithelial sodium channel in African patients with cystic fibrosis-like disease. L. Mutesa, C. Verhaeghe, J. F. Vanbellinghen, V. Dhennin, V. Bours.

1132T   Identification of genes for nonsyndromic hearing impairment using haplotype sharing and exome sequencing. M. Schraders, K. Neveling, J. Oostrik, C. F. H. A. Gilissen, R. J. C. Admiraal, J. A. Veltman, H. P. M. Kunst, E. H. Hoefsloot, R. J. E. Pennings, H. Kremer.

1133T   Identification of a frameshift mutation in HMGB3 (MIM 300193) in a family with Lenz microphthalmia (MCOPS1; MIM 302300). A. F. Scott, D. W. Mohr, L. M. Kasch, J. A. Barton, B. Craig, B. A. Marosy, K. F. Doheny, W. C. Bromley, T. Roderick, E. W. Jabs.

1134T   Replication evidence that constituents of the apical plasma membrane contribute to meconium ileus in cystic fibrosis. X. Li, H. Corvol, W. Li, T. Chiang, F. Lin, P.-Y. Boelle, M. Drumm, G. Cutting, M. Knowles, P. Durie, J. Rommens, L. Sun, L. Strug.

1135T   Looking for regulators of dystrophin Dp71 gene expression in hepatic cells. C. Becerril, E. Blancas-Sánchez, P. Zapata-Benavides, J. Dávila-Velderrain, B. Cisneros, M. Bermúdez de León.

1136T   Studying familial hypercholesterolemia by means of real-time PCR expression. T. Yu. Komarova, A. S. Golovina.

1137T   Genotype-phenotype correlation in beta thalassaemia. Z. Abdul Latiff, M. Sivalingam, M.. L. Looi, N. D. Husin, F. Z. Mohd Radin, R. Mohd Isa, S. Z. Syed Zakaria, N. H. Hussin, H. Alias, H. Ibrahim, R. Jamal.

1138T   Increased rate of nontruncating mutations in the NF1 gene among individuals with NF1 related disorders and pulmonic stenosis: A novel genotype-phenotype correlation and insight. S. Ben-Shachar, S. Constantini, E. Sach, D. G. Evans, S. M. Huson.

1139T   TRIM50 forms a complex with HDAC6 and p62/SQSTM1 that localizes to aggresomes. C. Fusco, L. Micale, M. Egorov, M. Monti, E. V. D’Addetta, B. Augello, G. Cotugno, F. Cozzolino, A. Calcagně, M. N. Loviglio, R. S. Polishchuk, P. Pucci.

1140T   Molecular analysis of NPHS2 gene in a Brazilian cohort with childhood nephrotic syndrome. M. S. Guaragna, A. C. G. B. Lutaif, S. Z. P. Rigazzo, V. M. S. Belangero, G. Guerra-Júnior, M. P. de Mello.

1141T   A novel mutation in the AMELX gene and multiple crown resorptions. J. W. Kim, S. K. Lee, K. E. Lee, S. E. Jung, S. J. Song, S. H. Cho.

1142T   Molecular characterization of thalassemia: Effect of alpha gene number on phenotype. R. Kumar, S. Agarwal.

1143T   Analysis of the polymorphism -930 A/G (rs9932581) in the CYBA gene in pediatric patients with sickle cell anemia. M. B. Melo, G. P. Gil, G. Ananina, M. B. Oliveira, M. J. Silva, D. Stancato, F. Menaa, M. N. N. Santos, A. S. Araujo, M. A. Bezerra, F. F. Costa.

1144T   Functional consequences and structural interpretation of mutations of human choline acetyltransferase. X. Shen, T. Crawford, J. Brengman, G. Acsadi, S. Iannaconne, E. Karaca, C. Khoury, J. Mah, S. Edvardson, Z. Bajzer, D. Rodgers, A. Engel.

1145T   Heme oxygenase-1 gene promoter polymorphism is associated with reduced incidence of acute chest syndrome in children with sickle cell anemia. C. Bean, S. Boulet, D. Ellingsen, M. Pyle, E. Barron-Casella, J. Casella, S. Ofori-Acquah, W. C. Hooper, M. DeBaun.

1146T   Homozygous c.369_370delAG and c.374_376delCGC mutation in STX11 gene in a patient with familial hemophagocytic lymphohistiocytosis. H. Onay, D. Yilmaz Karapinar, A. Aykut, S. Gokce, B. Karapinar, F. Ozkinay.

1147T   STK4 deficiency: A novel primary immunodeficiency affecting both innate and adaptive immunity and including cardiac defects. A. A. Schaffer, H. Abdollahpour, G. Appaswamy, R. Beier, E. M. Gertz, A. Schambach, H. H. Kreipe, D. Pfeifer, K. R. Engelhardt, N. Rezaei, B. Grimbacher, S. Lohrmann, R. Sherkat, C. Klein.

1148T   Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. H. J. Bolz, C. Dafinger, M. C. Liebau, S. M. Elsayed, Y. Hellenbroich, E. Boltshauser, G. C. Korenke, F. Fabretti, A. R. Janecke, I. Ebermann, G. Nürnberg, P. Nürnberg, H. Zentgraf, F. Koerber, K. Addicks, E. Elsobky, T. Benzing, B. Schermer.

1149T   FORGE Canada: A nation-wide effort to identify genes causing Mendelian disorders. K. M. Boycott, C. L. Beaulieu, J. Marcadier, J. Michaud, J. Friedman, M. Samuels, B. Knoppers, B. Fernandez, F. Bernier, S. Scherer, M. Brudno, FORGE Canada Consortium.

1150T   Whole-exome sequencing in a single proband reveals causative mutation in autosomal recessive peeling skin syndrome. R. M. Cabral, M. Kurban, M. Wajid, Y. Shimomura, L. Petukhova, A. M. Christiano.

1151T   Deficiency of adaptor protein complex 4 causes autosomal recessive intellectual disability with absent speech, shy character, progressive spastic paraplegia and short stature. L. Colleaux, O. Philippe, A. Raas-Rothschild, S. Eck, E. Graf, R. Buchert, G. Borck, A. Ekici, F. F. Brockschmidt, M. M. Nöthen, A. Munnich, T. M. Strom, A. Reis, R. Abou Jamra.

1152T   Mutation in STXBP5L in a novel neurodegenerative disorder with severe axonal peripheral neuropathy, neurogenic muscular atrophy and optic atrophy. M. Corbett, R. Sharma, K. Smith, A. Hoischen, J. Veltman, M. Bahlo, E. Haan, J. Gecz.

1153T   BLOC-1 mutation screening in Hermansky-Pudlak syndrome reveals a new HPS subtype, HPS-9, associated with mutations in PLDN (pallidin) and a novel BLOS3 (HPS-8) mutation. A. R. Cullinane, J. A. Curry, C. Carmona-Rivera, G. Golas, C. G. Summers, C. Ciccone, N. D. Cardillo, H. Dorward, R. A. Hess, J. G. White, D. Adams, M. Huizing, W. A. Gahl.

1154T   Mutations in MEGF11 cause juvenile open angle glaucoma. B. J. Fan, D. Y. Wang, X. Chen, K. Linkroum, E. A. DelBono, J. L. Haines, J. L. Wiggs.

1155T   Genetic heterogeneity in the brittle cornea syndrome: New evidence that ZNF469 and PRDM5 regulate extracellular matrix development and maintenance within the same pathway. C. Giunta, F. Manson, E. M. M. Burkitt Wright, H. L. Spencer, N. Zoppi, A. R. Janecke, C. Bürer-Chambaz, H. Al-Hussain, M. Wilson, M. Bakshi, D. Sillence, M. Colombi, B. Steinmann, M. Rohrbach, G. C. M. Black.

1156T   Comparative study of mutation spectra in North-West Russia familial hypercholesterolemia: St. Petersburg versus Petrozavodsk. A. S. Golovina, T. Y. Komarova.

1157T   Adams-Oliver syndrome, identification of a putative causal gene using exome sequencing. S. J. Hassed, G. B. Wiley, S. Wang, J. Y. Lee, S. LI, Y. Xu, Z. J. Zhao, J. J. Mulvihill, J. Robertson, P. M. Gaffney.

1158T   Novel X-linked disorder identifies the phenotype of a germline mutation in PIGA: The gene somatically mutated in paroxysmal nocturnal hemoglobinuria. J. J. Johnston, A. L. Gropman, J. Martin, J. C. Sapp, J. K. Teer, R. A. Brodsky, L. G. Biesecker, NIH Intramural Sequencing Center.


Cancer Genetics

 

1159T   Insulin-like growth factor-1 polymorphism and cancer risk: A systematic review and meta-analysis. M. S. Haerian, B. S. Haerian.

1160T   Detection of high levels of urinary apoptotic nucleic acids and promoter hyper-methylation of multiple tumor suppressor genes in prostate cancer. A. Haj-Ahmad, M. Abdalla, Y. Haj-Ahmad.

1161T   Genetic study of Tunisian familial hematological malignancies. W. S. Hamadou, R. Elabed, Y. Ben Youssef, A. Khelif, H. Sobol, Z. Soua.

1162T   Extending the benign and malignant phenotypes associated with germline DICER1 mutations. N. Hamel, M. Tischkowitz, A. Bahubeshi, B. Pasini, S. Asioli, G. Baynam, A. Overkov, R. P. Frieder, M. Dishop, N. Graf, M. Ekim, D. Bouron-Dal Soglio, J. Arseneau, R. H. Young, N. Sabbaghian, A. Srivastava, J. R. Priest, W. D. Foulkes.

1163T   Direct detection and enumeration of circulating tumor cells by castPCR analysis of digitally enriched samples. T. Hartshorne, D. Deng, S. Sproul, Y. Bao, Y. Fawn, D. Merrill, P. Brzoska, C. Chen.

1164T   Investigating the function of microseminoprotein-beta in prostate cancer. J. E. Hayes, X. Xu, H. Lilja, R. J. Klein.

1165T   Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia. J. Healy, V. Saillour, M. Bourgey, A. Alter, M. Larivičre, J. F. Spinella, C. Richer, S. Busche, B. Ge, A. Montpetit, P. Awadalla, T. Pastinen, D. Sinnett.

1166T   Lobular endocervical glandular hyperplasia found in a Peutz-Jeghers syndrome patient positive for STK11 mutation. A. Hirasawa, T. Akahane, T. Tsuruta, K. Banno, N. Susumu, K. Sugano, D. Aoki.

1167T   Differential methylation in pancreatic cancer and the associated effects on gene expression. J. Hoskins, J. Jinping, H. Parikh, I. Collins, S. Hussain, L. Amundadottir.

1168T   CNVs and CN-LOH in MDS and AML: A study of 140 cases. X. Hu, A. Iqbal, A. Ahmd, G. Raca, X. Xu, D. Wolff, R. Burack, B. Kipphut, D. Mulford, M. Li.

1169T   Combined analysis with copy number variation identifies hotspot-located risk loci in lung cancer. L. Hu, X. Chen, X. Li, Y. Liu, Z. Zhang, P. Wang, X. Yi, J. Zhang, Y. Zhu, Z. Wei, F. Yuan, X. Kong.

1170T   Genetic variants in sex hormone metabolic pathway genes and risk of esophageal squamous cell carcinoma. P. L. Hyland, N. Hu, W. Wheeler, K. Yu, T. Ding, J.-H. Fan, S. M. Dawsey, C. C. Abnet, A. M. Goldstein, Z.-Z. Tang, Y.-L. Qiao, N. D. Freedman, P. R. Taylor.

1171T   Frequencies of common splice variants of prognostically important fusion oncogenes in Pakistani leukemia patients: Possible implication in leukemia biology, differential diagnosis, prognosis and treatment. Z. Iqbal, M. Iqbal, A. Aleem, M. I. Naqvi, A. H. Tahir, T. J. Gill, A. S. Taj, A. Qayyum, N. Ur-Rehman, M. Ferhan, I. H. Shah, M. Khalid, M. F. Al-Haque, Z. Aziz, W. X. Qin, A. M. Khalid, M. Khan, S. M. Baig, A. Jameel, M. N. Abbas, T. Akhtar, Hematology Oncology and Pharmacogenetic Engineering Sciences Group, Pakistan.

1172T   NQO1 expression correlates inversely with NFκB activation in human breast cancer. M. Jamshidi, J. Bartkova, D. Greco, J. Tommiska, R. Fagerholm, K. Aittomäki, J. Mattson, K. Villman, R. Vrtel, J. Lukas, P. Heikkila, C. Blomqvist, J. Bartek, H. Nevanlinna.

1173T   Comprehensive characterization of BRCA1/2 mutational spectrum in breast/ovarian cancer patients from Lithuania. R. Janavicius, V. Rudaitis, L. Griskevicius.

1174T   Linkage study suggests common genetic determinants for chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis. T. M. Jarvinen, S. Liyanarachchi, I. Comeras, L. Senter, G. Lozanski, E. Hertlein, J. C. Byrd, A. de la Chapelle.

1175T   Genome-wide association analysis of lymphoma. V. Joseph, T. Kirchhoff, J. Brown, D. B. Yehuda, A. Dutra-Clarke, N. Hansen, J. Przybylo, V. Devlin, A. Viale, R. Klein, A. Zelenetz, K. Offit.

1176T   Elevated levels of oxdatively damaged DNA in patients with selenoprotein deficiency. M. Karbaschi, E. Schoenmakers, M. D. Evans, K. Chatterjee, M. S. Cooke.

1177T   Genes in the inflammatory and innate immunity pathway and prostate cancer. R. Kazma, J. A. Mefford, I. Cheng, S. J. Plummer, B. A. Rybicki, G. Casey, J. S. Witte.

1178T   COX-2 gene polymorphisms (rs20417 and rs5277) and risk of colorectal cancer. F. Khorshidi, M. Mohebbi, M. Montazer Haghighi, M. Yaghoob Taleghani, B. Damavand, M. Vahedi, M. R. Zali.

1179T   Sorting nexin 3 overexpression disrupts EGFR and MET endosomal trafficking promoting cell proliferation and tumorigenicity in pediatric glioblastoma. D. Khuong Quang, H. Al-Halabi, T. Haque, D. Faury, B. Meehan, J. Rak, S. Albrecht, N. Jabado.

1180T   Targeted second generation sequencing of genes with allele-specific gene expression in pediatric acute lymphoblastic leukemia cells. A. Kiialainen, P. Wahlberg, J. Nordlund, O. Karlberg, L. Milani, U. Liljedahl, T. Flaegstad, G. Jonmundsson, J. Kanerva, K. Schmiegelow, G. Lönnerholm, A.-C. Syvänen.

1181T   Multiplex sequencing of targeted genes for GWAS fine mapping. D. Klevebring, M. Neiman, J. Lindberg, S. Sundling, F. Wiklund, H. Grönberg, K. Czene, P. Hall.

1182T   Identification of lung adenocarcinoma driver mutations by pooled exome sequencing and network reconstruction. X. Kong, S. Yin, B. Lin, L. Hu.

1183T   Cancer specific promoter methylation in tubulocystic and papillary renal cell carcinomas. M. Korabecna, P. Steiner, T. Vanecek, E. Pazourkova, Z. Musil, M. Hora, O. Hes.

1184T   Loss of FADS2 function at 11q13 cancer hot spot region causes synthesis of unusual butylene-interrupted fatty acids. K. S. D. Kothapalli, W. J. Park, P. Lawrence, J. T. Brenna.

1185T   Genomic characterization of familial lung cancer patients. Y. Kukita, K. Taniguchi, J. Okami, M. Higashiyama, Y. Suzuki, S. Sugano, R. Matoba, J. Kato, N. Kato, I. Nakamae, T. Kawabata, K. Kodama, K. Kato.

1186T   C-Kit and Bcl-2 expression in testicular cancer. S. Lai, L. K. Green.

1187T   PTGER4 is regulated by ETV6, a transcription factor implicated in childhood leukemia. J. Larose, C. Malouf, S. Langlois, D. Sinnett.

1188T   Does germline variation in the number of glutathione S-transferase gene copies affect the risk of metachronous colorectal neoplasia? C. Laukaitis, C. Fuentes-Mauss.

1189T   microRNAs contribute to the chemoresistance of cisplatin and paclitaxel in patients with head and neck squamous cell carcinoma. A. C. Laus, T. Macedo, A. C. Carvalho, C. Scapulatempo Neto, A. L. Carvalho, EI. Palmero, M. M. C. Marques.

1190T   Novel regions of suggestive linkage in African American hereditary prostate cancer families. E. M. Ledet, J. E. Bailey-Wilson, D. M. Mandal.

1191T   Evidence for population-based screening of BRCA1 and BRCA2. E. Levy-Lahad, E. Gabai-Kapara, B. Kaufman, C. Catane, S. Regev, P. Renbaum, U. Beller, M.-C. King, A. Lahad.

1192T   Glioblastoma multiforme: Genomic estimates of tumor purity and revised classification. B. Li, Y. Senbabaoglu, W. Peng, J. Li.

1193T   Testing for BRCA1/2 mutations in hereditary breast cancer in Rio de Janeiro, Brazil. M. A. F. D. Lima, K. R. L. Souza, A. C. E. Santos, C. H. Costa, A. Moreira, M. Moreira, F. R. Vargas.

1194T   Integrated analysis of prostate cancer for the identification of biomarkers correlated to recurrent disease. J. Lindberg, D. Klevebring, W. Liu, O. Laurin, M. Neiman, J. Xu, P. Wiklund, F. Wiklund, L. Egevad, H. Grönberg.

1195T   A general statistical approach to somatic mutation discovery in cancer genome sequence. P. Liu, X. Hua, H. Xu, S. Park, Y. Lu.

1196T   Identification of a genetic variant associated with treatment outcome in ovarian cancer. Y. Lu, S. Johnatty, E. Gamazon, J. Beesley, X. Chen, B. Gao, P. Harnett, R. S. Huang, E. Despierre, F. Heitz, E. Hogdall, C. Hogdall, R. Brown, K. Moyisch, P. Fasching, E. Goode, E. M. Dolan, S. Macgregor, A. deFazio, G. Chenevix-Trench, Ovarian Cancer Association Consortium.

1197T   The role of miRNAs in cyclo-oxygenase-2 mediated breast cancer metastasis. M. Majumder, L. Dunn, P. K. Lala.

1198T   P53 isoforms are regulated by ETV6, a transcription factor involved in childhood acute lymphoblastic leukemia. C. Malouf, J. Larose, S. Langlois, B. Neveu, D. Sinnett.

1199T   Fine needle aspiration biopsy and aCGH in uveal melanoma. D. Martinet, A. Schalenbourg, B. Rapin, L. Zografos, J. S. Beckmann, A. P. Moulin.

1200T   Clinical laboratory experience of gene expression profiling of 2,384 solid tumors. M. J. McGinniss, A. Ghazalpour, M. Hadlock, J. Garcia, N. Marcus, Y. Hosohata, J. Zarkovic, D. Jacquin, D. Flood, K. Wiste, K. Swetel, B. Toussaint, L. Teets, R. P. Bender.

1201T   Genome-wide transcriptional sequencing identifies novel mutations in metabolic genes in human hepatocellular carcinoma. D. Meerzaman, C. Yan, B. Dunn, M. Edmonson, R. Finney, C. Cultraro, L. Dong, Z. Yang, Y. Hu, J. Kelley, H. Zhang, N. Park, K. Buetow.

1202T   Molecular characterization of adeno-pituitary adenoma: Familial isolated prolactinoma. F. M. Melo, L. Bastos-Rodrigues, M. S. Sarquis, L. De Marco.

1203T   Identifying women at increased risk of breast cancer: Can we use genotyping at low penetrance loci? C. Merrick, J. Dunlop, L. Baker, E. Gellatly, A. Martin, P. Quinlan, R. Tavendale, A. M. Thompson, C. Palmer, M. Reis, J. N. Berg.

1204T   Understanding the role of TRIM8, a new p53 target gene that modulates p53 activity, in the progression of glioma. L. Micale, M. F. Caratozzolo, C. Fusco, B. Augello, M. N. Loviglio, M. G. Turturo, G. Cotugno, T. Lopardo, F. Galli, S. Cornacchia, F. Marzano, A. M. D'Erchia, L. Guerrini, G. Pesole, E. Sbisŕ, A. Tullo, G. Merla.

1205T   Functional polymorphism in promoter survivin gene and risk of urothelial bladder carcinoma in North Indian population. R. D. Mittal, P. Jaiswal, A. Mandhani, T. Mittal, R. Kapoor.

1206T   CREB3 and STK11 show different gene expression profiles in benign and malignant salivary gland cancers. N. Mohammadi Ghahhari, M. Kadivar, A. R. Kamyab, M. T. Khorsandi Ashtiani, H. Mohammadi Ghahhari.

1207T   Systematic meta-analysis for common low penetrance genes in colorectal cancer. Z. Montazeri, E. Theodoratou, J. Little, H. Campbell.

1208T   Genomic copy number alterations in renal carcinoma: Associations with case characteristics and VHL gene inactivation. L. E. Moore, E. Jaeger, M. L. Nickerson, P. Brennan, S. Devries, R. Roy, H. Li, D. Zaridze, V. Janout, V. Bencko, M. Navratilova, N. Szeszenia-Dabrowska, D. Mates, W. M. Linehan, M. Merino, J. Simko, R. Pfeiffer, P. Boffetta, W. H. Chow, N. Rothman, F. W. Waldman.

1209T   Evaluation of circulating tumor DNA as marker for decease progression in breast and prostate cancer. M. Neiman, J. Lindberg, D. Klevebring, T. Nordström, L. Eriksson, L. Nygĺrd, F. Celebioglu, K. Czene, P. Hall, H. Grönberg.

1210T   Molecular profiling of inherited colorectal cancer syndromes by genomic analysis of normal tissue. D. Neklason, B. Milash, L. Frey, M. Done, N. Sargent, T. Berry, T. Tuohy, R. Burt.

1211T   Replication of susceptibility loci for lung cancer in a French Canadian population. J. D. U. Nguyen, M. Lamontagne, C. Couture, M. Laviolette, Y. Bossé, Merck-Laval-UBC-Groningen Lung eQTL Consortium.

1212T   Early insights from whole-exome analysis of early-onset, multiple-case breast cancer pedigrees. T. Nguyen-Dumont, D. J. Park, F. Odefrey, F. Hammet, Z. L. Teo, D. E. Goldgar, S. V. Tavtigian, B. J. Pope, A. Lonie, M. C. Southey, BCFR, BRCAX Consortium.

1213T   Diagnostic improvement of thyroid nodules cytology by determination of three genes expression profile. V. Novik, G. Molina, A. Vasquez, R. Ceriani, M. Fuentes, C. Weisntein, C. Henríquez-Roldán, G. Arístides, D. Navarrete, F. Brusco, G. Lezana, A. Lobos.

1214T   Li-Fraumeni syndrome: Retesting archival DNA samples identifies previously unrecognized germline p53 mutations. A. Novokmet, B. Baskin, P. Ray, D. Malkin.

1215T   Expression of human endogenous retroviruses in childhood acute leukemia cells. J. Nowak, K. Nowicka, J. Rembowska, D. Januszkiewicz.

1216T   Detecting copy number aberrations in tumors using SNP array technology: A comparison of several available methods. K. Oros Klein, S. Arcand, A. Birch, D. Provencher, J. Squire, A. M. Mes-Masson, P. N. Tonin, C. M. T. Greenwood.

1217T   Circulating microRNAs expression profiling to identify reference genes for relative quantification in acute lymphoblastic leukemia patients. R. Ortiz-Lopez, M. Luna-Aguirre, I. Garza-Veloz, V. Trevińo-Alvarado, F. Mar-Aguilar, H. Gutierrez-Aguirre, O. Gonzalez-Llano, R. Salazar-Riojas, G. I. Malagón-Santiago, A. Rojas-Martínez, A. Hidalgo-Miranda, C. Jaime-Perez, D. Gómez-Almaguer, H. Martínez-Rodriguez.

1218T   Methylation profile analysis of DNA repair genes in hepatocellular carcinoma with MS-MLPA. O. Ozer, B. Bilezikci, S. Aktas, F. I. Sahin.

1219T   No evidence that FAN1 R377W or R507H, identified via exome sequencing in multiple-case, early-onset breast cancer families, influence breast cancer risk. D. J. Park, F. Odefrey, F. Hammet, G. G. Giles, L. Baglietto, J. L. Hopper, D. F. Schmidt, E. Makalic, O. M. Sinilnikova, D. E. Goldgar, M. C. Southey, ABCFS, MCCS.

1220T   Analysis of IKZF1 splicing variants, and expression of CASP8AP2 and H2AFZ in childhood acute lymphoblastic leukemia. P. Perez-Vera, R. Juarez-Velazquez, A. Reyes-Leon, C. Salas, A. Medrano, R. Paredes, R. Cardenas, G. Lopez-Hernandez, P. Navarrete, A. Lopez, A. Carnevale, R. Ortiz.

1221T   microRNA regulation of cell viability and drug sensitivity in lung cancer. A. Pertsemlidis, L. Du, C. DeSevo, R. Borkowski, M. Baker, A. Gazdar, J. Minna.

1222T   Lung adenocarcinoma and squamous cell carcinoma develop through distinct genomic and epigenomic pathways. L. Pikor, W. W. Lockwood, I. M. Wilson, B. P. Coe, R. Chari, K. L. Thu, C. E. MacAulay, S. Lam, W. L. Lam.

1223T   Genetic testing and immunohistochemistry for SDHB in phaeochromocytoma-paraganglioma syndromes: The South Australian experience. N. Poplawski, A. Duszynski, L. Rawlings, J. Seymour, D. Benn, A. Gill.

1224T   Integrated epigenetics of human breast cancer subtypes: Synoptic investigation of targeted genes, microRNAs and proteins upon demethylation treatment. R. Radpour, Z. Barekati, C. Kohler, M. M. Schumacher, T. Grussenmeyer, P. Jenoe, J. Bitzer, I. Lefkovits, F. Staedtler, X. Y. Zhong.

1225T   Polymorphism of TYMS in Mexican breast cancer patients. A. Ramos, A. Solorzano, L. E. Figuera, A. M. Puebla, M. P. Gallegos.

1226T   Rhesus macaque as an animal model for hereditary non-polyposis colorectal cancer. M. Raveendran, P. Gillespie, Jr., D. W. Brammer, D. P. Young, J. G. Gelovani, J. Rogers.

1227T   Identification of a BRCA2 truncating mutation in a hereditary prostate cancer case with a family history of breast and ovarian cancer through next-generation sequencing. A. M. Ray, K. A. Zuhlke, C. M. Robbins, W. D. Tembe, J. Xu, S. L. Zheng, J. D. Carpten, E. M. Lange, W. B. Isaacs, K. A. Cooney.

1228T   High prevalence of germline p53 mutations among a consecutive series of unselected patients with adrenal cortical carcinoma. V. M. Raymond, J. N. Everett, J. L. Long, T. Else, G. D. Hammer, S. B. Gruber.

1229T   DNA repair pathways and lymphoma susceptibility. J. Rendleman, Y. Antitpin, B. Reva, J. Przybylo, A. Dutra-Clarke, A. Heguy, K. Huberman, O. Paltiel, D. Ben-Yehuda, J. Brown, C. Sander, R. J. Klein, K. Offit, T. Kirchhoff.

1230T   High quality genotyping data from FFPE tumor samples. B. Riley-Gillis, R. Benayed, A. Helm, K. Gunderson, J. Izzo, D. Pokholok, J. Le, C. Fishman, J. Garsetti, M. Martin.

1231T   BRCA1 and BRCA2 large genomic rearrangement testing in a large cohort of hereditary breast/ovarian cancer patients: Prevalence and mutation profiles in risk-stratified patient groups of different ethnicities. B. Roa, E. Rosenthal, C. Arnell, L. A. Burbidge, W. Geary, J. Schoenberger, J. Trost, R. Wenstrup, T. Judkins.

1232T   Elucidation of the role of miR-302 in the induction of TGF-beta signaling pathway in tumor cells. S. Rohban, M. R. Rafiee, A. Malekzadeh Shafaroudi, M. Malakootian, N. Ghorbanmehr, S. J. Mowla.

1233T   Large deletions of the APC-gene region in familial adenomatous polyposis patients and the effect on the expression from promoter 1A and 1B. A. Rohlin, Y. Engwall, K. Fritzell, J. Björk, M. Nordling.

1234T   An integrated (epi)genomic approach reveals the role of retinoic acid in cell fate determination. S. Rossetti, N. Visconti, J. Fischer, N. Sacchi.

1235T   Evaluation of polymorphisms GSTP1 A313G and GSTP1 C341T in patients with head and neck squamous cell carcinoma. A. Russo, P. F. Francelin, M. A. Palmejani, A. L. Galbiatti, M. T. Ruiz, T. P. Gueroni, J. V. Maniglia, E. C. Pavarino, E. M. Goloni-Bertollo.

1236T   Study of P53 gene mutations in promoter and exons 2-11 in gastric cancer by PCR-SSCP in a province of Iran. J. Saffari Chaleshtori, M. Moradi, E. Farrokhi, M. A. Tabatabaieefar, M. Taherzadeh Ghahfarokhi, G. Mobini, F. Shayesteh, F. Azadegan, G. Rahimian, H. Nazem, M. Hashemzadeh Chaleshtori.

1237T   A genome-wide association study of early onset prostate cancer: Increased genetic burden among young cases. C. A. Salinas, E. M. Lange, K. A. Zuhlke, A. M. Ray, Y. Wang, Y. Luo, W. B. Isaacs, S. L. Zheng, K. A. Cooney.

1238T   Investigation of expression level of MDR1 in Iranian colorectal cancer patients. S. Samanian, F. Mahjoubi, B. Mahjoubi, R. Mirzaee, R. Azizi.

1239T   Heat shock protein polymorphism and the risk of development of hepatocellular carcinoma in chronic liver disease patients from India. M. P. Sarma, M. Asim, S. Medhi, P. Kar.

1240T   Single nucleotide polymorphisms in E-cadherin gene confer risk to breast cancer. V. Satti, N. Tipirisetti, S. Govatati, K. Lakshmi Rao, R. R. Digumarti, M. Bhanoori, M. Deenadayal.

1241T   Genomic characterization of bladder cancer initiation and development. S. Scherer, T. Majewski, J. Bondaruk, D. Muzny, J. Drummond, L. Trevino, J. Niu, S. Zhang, J. Reid, K. Baggerly, I. Newsham, C. Dinney, B. Grossman, W. Zhang, M. Wang, Y.-Q. Wu, M. Morgan, D. Wheeler, B. Czerniak, R. Gibbs.

1242T   Proteomic and pathway analyses reveal a network of inflammatory genes associated with differences in skin tumor promotion susceptibility in DBA/2 and C57BL/6 mice. J. Shen, E. L. Abel, J. M. Angel, P. K. Riggs, J. Repass, S. C. Hensley, L. J. Schroeder, A. Temple, A. Chau, S. A. McClellan, K. Lin, M. D. Ward, O. J. Semmes, M. D. Person, J. DiGiovanni.

1243T   A novel deletion of MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype. Y. Shi, H. Raef, M. Zou, E. Baitei, R. Al-Rijjal, N. Kaya, M. Al-Hamed, D. Monies, N. Abu-Dheim, H. Al-Hindi, M. Al-Ghamdi, B. F. Meyer.

1244T   Genetic alterations in FGFR3 and RAS reveal mutual exclusiveness of these genetic events in urinary bladder cancer. A study in Kashmiri population. M. A. Siddiqi, A. A. Pandith, Z. A. Shah, N. P. Khan, M. S. Wani.

1245T   Transcriptome-based bioinformatic analysis of a unique ovarian cancer model. S. N. Smillie, K. Gambaro, D. Provencher, A.-M. Mes-Masson, P. N. Tonin.

1246T   Germline RAD51C mutations in breast and ovarian cancer susceptibility. F. Soubrier, N. Davids, A. Fajac, C. Colas, M. Eyries, F. Cornelis, A. Cortez, R. Rouzier, S. Uzan, J.-P. Lefranc.

1247T   Whole exome sequencing of pre- and post-treatment glioblastoma multiforme. K. Squire, A. Lai, S. F. Nelson.

1248T   Role of genetic variants of ESR1, ESR2 and PGR in susceptibility to gallbladder cancer. A. Srivastava, K. Sharma, S. Misra, A. Kumar, N. Srivastava, B. Mittal.

1249T   De novo germline genetic alterations in cancer susceptibility. Z. Stadler, S. Shah, B. Yamrom, J. Vijai, D. Esposito, D. Levy, J. Kendall, K. Sarrel, N. Hansen, M. Robson, N. Kauff, D. Feldman, G. Bosl, L. Norton, M. Wigler, K. Offit.

1250T   Common breast cancer susceptibility loci are associated with triple negative breast cancer. K. N. Stevens, H. Nevanlinna, D. Yannoukakos, P. A. Fasching, D. Eccles, J. Chang-Claude, P. Miron, J. E. Carpenter, A. K. Godwin, U. Hamann, C. Ambrosone, R. Winqvist, H. Brauch, D. Lambrechts, I. dos Santos Silva, J. Peto, M. K. Schmidt, A. Cox, G. Severi, E. Sawyer, S. Margolin, A. Manermaa, N. G. Martin, G. W. Montgomery, P. Pharoah, D. F. Easton, X. Wang, S. Slager, C. M. Vachon, F. J. Couch, Triple Negative Breast Cancer Consortium.


Cytogenetics

 

1251T   Effects of phytochemicals on nickel- and chromium-induced DNA damage. A. R. Patel, S. S. Chettiar, D. D. Jhala, M. V. Rao.

1252T   Detecting chromosomal inversions using chromatid paints: Use for synteny among the Hominidae. F. A. Ray, E. Zimmerman, M. N. Cornforth, J. S. Bedford, E. H. Goodwin, S. M. Bailey.

1253T   Implementation of whole genome copy number-SNP arrays in a clinical reference laboratory: expanding the possibilities for molecular karyotyping. T. Sahoo, R. Owen, L. P. Ross, M. M. Elnaggar, P. H. Kohn, M. H. Haddadin, F. Z. Boyar, L. W. Mahon, B. T. Wang, C. M. Strom, A. L. Anguiano.

1254T   Suggestion for post-zygotic translocation; X-chromosome inactivation spred to autosome with a t(X;15)(p21.1;q11.2) translocation. S. Sakazume, H. Ohashi, Y. Sasaki, N. Harada, K. Nakanishi, H. Sato, M. Emi, K. Endoh, Y. Kido, T. Nagai, T. Kubota.

1255T   Identification of chromosomal alterations in autism patients. K. Sasikala, V. Balachandar.

1256T   Molecular cytogenetic characterization of partial deletion Xq and duplication Xp in a patient with premature ovarian failure. S. H. Shim, M. K. Kim, S. H. Park, J. E. Park, Y. H. Cho, D. H. Cha, T. K. Yoon.

1257T   A 3.44 MB interstitial duplication of chromosome 3 with no apparent phenotype detected by SNP array. M. Thangavelu, J. H. Tepperberg, J. Hume, B. Huang.

1258T   Cytogenetic study of petrol pump workers occupationally exposed to benzene. R. P. Thumbar, P. K. Gadhia.

1259T   Cytogenetic analysis in material from abortions in couples with recurrent first-trimester miscarriages. C. Uria Gomez, G. Arteaga Ontiveros, A. Rodríguez Gómez.

1260T   Fetoplacental discrepancy with normal karyotype in amniotic fluid and two different cell lines in placenta: A case report. G. Velagaleti, K. Higby, E. Williamson, C. Mendiola, V. Ortega.

1261T   Mosaic isodicentric Y chromosome in a patient with mix gonadal dysgenesis. Z. Yilmaz, B. Yuksel, O. Ozer, F. I. Sahin.

1262T   Sex chromosome rearrangement and mosaicism in four patients with short stature and ovarian failure. C. Yu, M. Torchinsky, O. Abdul-Rahman, R. Morris, R. Hines.

1263T   Pathogenicity of interstitial deletions 14q investigated by CGH microarrays: When the size of the abnormality does not warrant that it is de novo. M. Beaulieu Bergeron, G. Mathonnet, V. Désilet, J. Gekas, M. Sylvain, R. Fetni, F. Tihy, E. Lemyre.

1264T   Interstitial 21q22.3 chromosomal deletion associated with intellectual disability, behavioral abnormalities, and microcephaly in siblings. C. Cottrell, S. Kulkarni, M. Vineyard, M. Shinawi.

1265T   Deletion 1q24q25: Four new cases with recognizable phenotype. M. de Blois-Boucard, V. Malan, O. Raoul, N. Morichon, M. Willems, S. Nussbaum, A. Munnich, M. Vekemans, V. Cormier-Daire.

1266T   Chromosome microarray analysis and zebrafish studies identify CCDC165 as a new candidate gene for coloboma. P. Eydoux, B. McGillivray, K. Schlade-Bartusiak, C. Lyons, C. Gregory-Evans.

1267T   Prenatal detection of mosaicism for del(10)(q11.2) caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype. J. Liao, M. Sathanoori, S. A. Yatsenko, U. Surti.

1268T   Identification of a recombination hotspot sequence at the breakpoint region of the 22q11 deletion using a yeast model. T. Ohye, H. Inagaki, H. Kogo, M. Tsutsumi, B. S. Emanuel, H. Kurahashi.

1269T   Subtelomeric microdeletions 19p13.3 are associated with gastrointestinal dysmotility, multiple congenital anomalies and global developmental delay. S. Peddibhotla, S. W. Cheung, P. Stankiewicz, F. Probst, L. L. Harris, G. H. Vance, G. H. Scharer, L. K. Parsley, A. Patel.

1270T   Narrowing down congenital heart disease critical region boundaries on chromosome 4q according to the phonotypes of a patient with 2q34-qter duplication and 4q34.2-qter deletion. A. Rashidi-Nezhad, S. M. Akrami, N. Parvaneh, F. Farzanfar, C. Azimi, A. Reymond.

1271T   Comparison of two different high-resolution genomic arrays, the Affymetrix® Cytogenetics 2.7 versus the Genome-Wide Human SNP 6.0 Array, for diagnosis of CNVs in patients with intellectual disability. R. Asadollahi, B. Oneda, S. Azzarello-Burri, R. Baldinger, A. B. Ekici, D. Niedrist, A. Reis, D. Bartholdi, A. Baumer, A. Rauch.

1272T   Familial 5q14.3-5q21.1 duplication associated with microcephaly and developmental delay characterized by array-based comparative genomic hybridization. S. Ebrahim, D. Stockton, R. Chikamane, M. Hankerd, M. Kristofice, J. Wojciechowski, A. N. Mohamed.

1273T   Pathogenic chromosomal aberrations in the families with mental retardation and developmental delay detected by array-CGH. V. Kucinskas, J. Kasnauskiene, Z. Ciuladaite, E. Preiksaitiene, A. Alexandrou, G. Koumbaris, P. Patsalis.

1274T   Detection of chromosome abnormalities of spontaneous aborted samples using multiple ligation-dependent probe amplification. S. W. Lyu, S. R. Sung, J. E. Park, K. M. Kang, M. U. Chin, J. W. Kim, D. H. Cha, S. H. Shim.

1275T   Uniparental disomy: Can SNP array data be used for diagnosis? T. Tucker, K. Schlade-Bartusiak, P. Eydoux, T. Nelson, L. Brown.

1276T   Mosaic 27.49 Mb 18q terminal deletion with a non-mosaic 461 Kb deletion at the deletion breakpoint. J. Wang, A. Hajianpour, B. Huang, R. Habibian, J. Szymanska, H. Zhu.

1277T   Duplications of the DGS region on both chromosome 22 homologues in three patients — The co-occurrence on both homologues can involve both inherited and de novo events. W. Bi, J. Wiszniewska, F. J. Probst, B. S. Carter, M. D. Williams, P. Stankiewicz, A. Patel, J. R. Lupski, S. W. Cheung.

1278T   The PRR12 gene is disrupted by a de novo balanced t(10;19) chromosome translocation in a girl presenting with psychomotor retardation, aggression and seizures. C. Córdova-Fletes, V. Kalscheuer, R. Ullman, P. Barros-Núńez, B. Verduzco-Garza, M. G. Domínguez, R. Ortiz-López.

1279T   SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay. G. D'Amours, M. Langlois, G. Mathonnet, J. L. Michaud, M. S. Phillips, E. Lemyre.

1280T   Subtelomeric deletion of chromosome 10p15: Clinical findings and molecular cytogenetic characterization. C. DeScipio, L. K. Conlin, J. Rosenfeld, J. Tepperberg, A. Patel, M. T. McDonald, S. Aradhya, D. Ho, J. Goldstein, M. McGuire, L. Medne, R. Rupps, A. Serrano-Russi, E. C. Thorland, A. Tsai, Y. Hilhorst-Hofstee, H. Van Esch, D. Clark, H. Riethman, N. B. Spinner, I. D. Krantz.

1281T   Cytogenetic analysis of an additional ten cells does not improve the detection of sex chromosome mosaicism. J. T. Mascarello, M. Thangavelu.

1282T   21,5 Mb mosaic pure inverted duplication of chromosome 1q42.13qter. M. L. M. Morris, C. N. Medina, E. L. Freitas, C. Rosenberg, S. F. Oliveira, I. Ferrari, J. F. Mazzeu.

1283T   45,X (40%); 46,X der X (ter rea) (60%) mosaicism: Case report. M. Pérez Sánchez, A. Gonzalez Ramírez, A. Enriquez de Luna, A. Mora Guijosa.

1284T   Elucidation of inheritance and pathogenicity of CNVs: An approach to a better understanding and clinical utility of SNP arrays. S. Schwartz, C. M. Smith, R. D. Burnside, I. Gadi, V. Jaswaney, E. Keitges, R. Pasion, V. R. Potluri, H. Risheg, J. Smith, J. H. Tepperberg, B. Williford, P. R. Papenhausen.

1285T   A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. K. Shimojima, B. Isidor, C. Le Caignec, A. Kondo, S. Sakata, K. Ohno, T. Yamamoto.

1286T   How to recognize a recombinant pericentric inversion at array CGH. R. F. Suijkerbuijk, L. K. Leegte, T. Dijkhuizen, B. Sikkema-Raddatz, J. B. G. M. Verheij, R. J. Sinke, C. M. A. van Ravenswaaij-Arts.

1287T   Confirmation testing for CNVs detected by whole genome microarrays: Necessary or obsolete. J. Tepperberg, E. Keitges, H. Risheg, J. Smith, V. R. Potluri, R. Pasion, B. Rush, R. D. Burnside, J. Jaswaney, I. K. Gadi, R. Royster, S. Moore, J. Kesler, S. Griffin, S. Schwartz, P. R. Papenhausen.


Metabolic Disorders

 

1288T   Study on correlation between severe preeclampsia and abnormal expression of long-chain fatty acid oxidative enzyme. X. L. Sun, Z. Yang, J. L. Wang.

1289T   Study on the expression of LCHAD in trophoblast cells stimulated with different chain length fatty acids. J. L. Wang, Z. Yang, X. L. Sun.

1290T   Study on the gene and protein expression of p38MAPK and COX-2 in trophoblast cells stimulated by different chain length fatty acids. Z. Yang, X. L. Sun, J. L. Wang.

1291T   Biochemical and molecular characterization of the W1327X frequent mutation in Tunisian families with glycogen storage disease type III. A. Mili, A. Amara, I. Ben Charfeddine, O. Mamaď, L. Adala, A. Ayadi, A. Saad, K. Limem, M. Gribaa.

1292T   Association of adiponectin and leptin gene polymorphisms with hypertension in type 2 diabetic patients. O. Khabour, S. Wehaibi, S. Al-Azzam, K. Alzoubi.

1293T   Deficiency in Mthfr or low dietary choline may lead to adverse reproductive outcomes by modulating ApoAI and inflammatory mediators PPAR-alpha, IFN-gamma or IL-10. L. G. Mikael, J. Pancer, Q. Wu, R. Rozen.

1294T   Large-scale replication using Metabochip array identifies additional genetic loci influencing glycaemic traits. R. A. Scott, V. Lagou, E. Wheeler, R. Welch, R. Mägi, J. Luan, T. M. Teslovich, C. Langenberg, I. Prokopenko, I. Barroso on behalf of MAGIC Investigators.

1295T   Gene and pathway-based analysis of 61 genetic variants in the nicotinic acetylcholine receptor genes and insulin resistance in American Indians. J. Yang, S. A. Cole, K. Haack, B. V. Howard, L. G. Best, R. B. Devereux, E. T. Lee, J. Zhao.

1296T   MPS Brazil Network International Program: Helping to identify MPS patients around the world. R. Giugliani, K. Jesuino, A. Brites, M. Burin, S. Leistner-Segal, U. Matte, M. Wilke, A. Federhen, I. V. Schwartz, MPS Brazil Network Members.

1297T   Simple and rapid testing for citrin deficiency. A. Kikuchi, O. Sakamoto, T. Ohura, Y. Matsubara, T. Saheki, K. Kobayashi, S. Kure.

1298T   Molecular genetics of glycogen storage diseases. J. Wang, G. L. Wang, F. Y. Li, M. L. Landsverk, W. Zhang, E. S. Schmitt, L. C. Wong.

1299T   Phenotype to genotype corallation in a mild form of isovaleric acidemia with novel G391V in three patients from a consangineous Saudi family. A. I. Al-Aqeel, D. Colak, B. Al-Younes, A. Al-Bakheet, S. Tulba, F. Al-Mutairi, M. Al-Amoudi, A. Al-Odaib, N. Kaya.

1300T   Meta-analyses of genetic association with body mass index in over 92,000 individuals using a gene-centric genotyping array. Y. Guo, M. Lanktree, K. Taylor, G. Papanicolaou, N. Timpson, K. North, H. Hakonarson, L. Lange, B. Keating on behalf of IBC-BMI Consortium.

1301T   Genotype-phenotype correlations in Pompe disease. A. Herzog, R. Hartung, E. Mengel, P. Hermanns, H. Runz, S. Gökce, J. Pohlenz, M. Beck.

1302T   MCAD mutation spectrum in individuals identified through newborn screening. A. Millson, A. Openshaw, E. Lyon.

1303T   The KUVAN® Adult Maternal Paediatric European Registry: Interim results on mutation frequencies of PKU patients. A. C. Muntau, F. K. Trefz, A. Bélanger-Quintana, J. Alm, F. B. Lagler, A. Burlina, B. Destenaves, F. Feillet on behalf of KAMPER Investigators.

1304T   Biotinidase deficiency genotype-enzyme correlation and a novel BTD mutation database. M. Procter, A. Openshaw, D. Crockett, B. Wolf, R. Mao.

1305T   ABCA1 R230C variant do not contribute to dyslipidemia during gestational diabetes. E. Zamarron-Licona, M. C. Martinwz-Lopez, F. De La Cruz-Ruiz, J. L. Cortés-Peńaloza, P. García-Guerra, R. Diaz-Martinez.

1306T   Massively parallel sequencing in suspected patients with mitochondrial disorders reveals multiple gene mutations unrelated to respiratory chain subunits or assembly factors. V. Vasta, R. P. Saneto, J. L. Merritt II, S. Hahn.

1307T   Mechanisms of HLA-DQ predispositions to type 1 diabetes in European and East Asian populations. H. Miyadera, K. Tokunaga.

1308T   Study of mutation spectrum in patients with Gaucher's disease from India. C. Ankleshwaria, M. Mistri, A. Bavdekar, M. Muranjan, J. Sheth.

1309T   Airway obstruction and surgery in mucopolysaccharidosis type I. P. Arn, J. E. Wraith, L. Underhill.

1310T   Transcriptional regulation of cellular clearance. A. Ballabio.

1311T   Higher paraoxonase gene polymorphism frequency among Brazilian Fabry disease patients. A. C. Barris-Oliveira, K. B. Müller, L. T. Turaça, J. B. Pesquero, A. M. Martins, V. D'Almeida.

1312T   Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications. A. Chan, D. Crumrine, T. Fergusson, O. Goker-Alpan, R. Schiffmann, W. Hollean, P. Elias, E. Sidransky.

1313T   Diffusion tensor imaging and volumetric studies of the brain in canine mucopolysaccharidosis I. P. I. Dickson, J. Provenzale, S. Chen, I. Nestrasil, N. M. Ellinwood, S. Q. Le, S. Kan, S. Banakar, H. Boutte, E. G. Shapiro.

1314T   Mucopolysaccharidosis IVA: A multidisciplinary approach. P. Harmatz, C. J. Hendriksz, S. Tomatsu, W. Mackenzie, G. A. Solanki, B. Lee.

1315T   Intrathecal hydroxy-propyl-beta-cyclodextrin reverses hearing loss in identical twin girls with Niemann-Pick type C disease. C. A. Hastings, J. Torkildson, R. Raphael.

1316T   Chemical chaperone therapy for β-galactosidase deficiency. K. Higaki, K. Ohno, Y. Suzuki, E. Nanba.

1317T   Attenuated phenotype in MPS VI (Maroteaux-Lamy) patients carring the p.R152W mutation. A. Jurecka, E. Piotrowska, L. Cimbalistiene, N. Gusina, A. Rozdzynska, B. Czartoryska, K. Qunap, G. Wegrzyn, A. Tylki-Szymanska.

1318T   Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: Analysis from the Gaucher Registry. A. Khan, T. Hangartner, N. J. Weinreb, J. A. Cole, A. R. Gwosdow, J. S. Taylor, P. K. Mistry.

1319T   A mechanistic study of Fabry heart disease using induced pluripotent stem cells. X. Meng, J. Shen, N. McNeill, B. Eberendu, R. Brady, R. Schiffmann.

1320T   Postnatal and prenatal diagnosis of lysosomal storage diseases in China. Y. Meng, W. Zhang, H. Shi.

1321T   Evaluation of the pattern of X chromosome inactivation in women with Fabry disease. K. B. Müller, A. C. Barris-Oliveira, E. S. Ramos, A. M. Martins, V. D'Almeida.

1322T   Screening for Fabry disease in Japan. K. Nakamura, K. Hattori, S. Matsumoto, H. Mitsubuchi, F. Endo.

1323T   Validation of chitotriosidase determination in dried blood spots on filter paper as a tool for screening and monitoring of Gaucher disease patients in Colombia. N. Pacheco Fernandez, A. Uribe.

1324T   Glycogen clearance by BMN 701 and alglucosidase alfa in a mouse model of Pompe disease. J. Peng, R. Cahayag, M. Fox, C. O'Neill.

1325T   TFEB links autophagy to lysosomal bigenesis. C. Settembre, C. Di Malta, V. Polito, M. Arencibia, F. Vetrini, S. Erdin, D. Medina, M. Sardiello, D. Rubinsztein, A. Ballabio.

1326T   Fabry disease mouse model exhibits cardiac hypertrophy and arrhythmias. J. Shen, X. Meng, B. Durant, R. Schiffmann.

1327T   Tissue preferential synergistic effect of saposin A and saposin B on glycosphingolipids degradation in mice. Y. Sun, M. Zamzow, H. Ran, W. Zhang, B. Quinn, S. Barnes, K. D. R. Setchell, G. A. Grabowski.

1328T   KIR/HLA gene variants in patients with Gaucher disease in Southern Brazil. F. Vairo, P. Portela, P. Salim, T. Alegra, C. Netto, M. L. Saraiva-Pereira, M. Jobim, L. F. Jobim, I. V. Schwartz.

1329T   Diagnostic testing for MPS VI (Maroteaux-Lamy syndrome): Laboratory survey results and recommendations from the MPS VI diagnostic summit. T. Wood, O. Bodamer, M. G. Burin, V. D'Almeida, C. Eng, M. Fietz, R. Giugliani, C. Hendriksz, P. Hwu, D. Ketteridge, Z. Lukacs, N. J. Mendelsohn, M. Pasquali, A. Schenone, K. Schoonderwoerd, B. Winchester, P. Harmatz.

1330T   The spectrum of mitochondrial DNA mutations in Iranian LHON patients. M. Houshmand, Z. Rezvani, E. Didari, A. Arasteh, V. Ghodsinejad.

1331T   Widely targeted metabolomics for diagnosing inborn errors of metabolism. T. Adam, H. Krätschmerova, K. Hron, P. Wojtowicz, A. Baresova, E. Hlidkova, P. Hornik, D. Behulova, D. Prochazkova, H. Vinohradska, K. Peskova, K. Adamová, S. Stastna, D. Friedecky.

1332T   Metabolite pattern on in vivo 1H-magnetic resonance spectroscopy of the brain in children with metabolic diseases. W. Al-Hertani, E. Mason, T. Tam, B. Schmitt, S. Blaser, H. Branson, A. Schulze.

1333T   Diagnostic program for the detection of Niemann-Pick C disease in Brazil (NPC Brazil Network). F. Timm, H. Bock, S. G. R. Santos, S. S. Mello, A. Brites, M. G. Burin, M. L. Saraiva-Pereira, R. Giugliani.

1334T   Proteomic analysis of induced pluripotent stem cells as a mechanism to study non-alcoholic fatty liver disease. S. Brown-Ford, A. DeLaForest, M. Cayo, M. Pellitteri-Hahn, M. Zelembaba, B. Halligan, S. Duncan, M. Olivier.

1335T   Expression of anti-lipolytic receptors in human adipose tissues and metabolic associations. L. Chamas, M. Neville, F. Karpe.

1336T   Does the CPT1A p.P479L variant confer risk for unexpected infant death in Nunavut, NWT and Yukon? S. Collins, G. Sinclair, G. Osborne, A. Corriveau, M. Santos, B. Hanley, F. Bamforth, C. Greenberg, H. Vallance, L. Arbour.

1337T   Maternal hyperhomocysteinemia lead to methionine cycle alteration of adult offspring. V. D'Almeida, V. C. Silva, E. J. Haseyama, M. T. C. Muniz.

1338T   Erythropoietic protoporphyrias: Frequency of mutations in the ferrochelatase gene causing autosomal recessive erythropoietic protoporphyria and mutations in the 5’-aminolevulinate synthase 2 gene causing X-linked protoporphyria. D. Doheny, I. Nazarenko, M. Balwani, L. Liu, H. Naik, K. Anderson, D. M. Bissell, J. Bloomer, H. Bonkovsky, J. Kushner, J. Phillips, D. Bishop, R. J. Desnick, Porphyrias Consortium of Rare Diseases Clinical Research Network.


Ethical, Legal, Social and Policy Issues in Genetics

 

1339T   Professional and family attitudes regarding large scale genetic information generated through next-generation sequencing in research. A. Cambon-Thomsen, A. Soulier, G. Bertier, S. Leonard, S. Julia, GEUVADIS Consortium.

1340T   The globalization of reprogenetic services: A thematic analysis of the current state of knowledge. V. Couture, C. Bouffard.

1341T   Managing incidental findings from genomic testing: A public perspective. S. Daack-Hirsch, A. Spore, J. K. Williams, M. Driessnack, C. Siomon.

1342T   The appropriate regulation of genetic discrimination at European level: What can we learn from international legislative efforts? A. de Paor.

1343T   Carte blanche ou carte rouge? Willingness of U.S. adults to give broad and limited consent for genetic research. R. Dvoskin, J. Murphy Bollinger, J. Scott, D. Kaufman.

1344T   Internatonal legislative and factors of influence on preimplantation genetic diagnosis. L. J. Escobar, J. Jimenez, E. Quesada, L. Hernandez, M. Jimenez.

1345T   Public attitudes and interest in newborn genetic testing. H. Etchegary, E. Dicks, J. Green, K. Hodgkinson, D. Pullman, P. Parfrey.

1346T   Uses of ancestry in structured association mapping: A critical analysis of recent literature. S. M. Fullerton, J. Yu, K. A. Edwards, J. S. Taylor, K. L. Edwards.

1347T   The presentation of risk information by personal genotyping services. S. T. K. Garcia, S. S. Lee, M. K. Cho.

1348T   The ethical and scientific challenges of representativeness in nutrigenetics clinical research. B. Godard, T. Hurlimann, R. Stenne, Omics-Ethics Research Group.

1349T   The Kaiser Permanente Research Program on Genes, Environment, and Health: Re-consent for sharing data through dbGaP and predictors of response. J. N. Harris, S. Rowell, A. Altschuler, M. Sadler, M. Henderson, P. Liljestrand, D. Olberg, N. Risch, C. Schaefer, C. Somkin.

1350T   Does a duty of disclosure foster special treatment of genetic research participants? R. Z. Hayeems, F. A. Miller, J. P. Bytautas, L. Li.

1351T   Duty to warn: A case report. K. Hodgkinson, R. Singleton, F. Curtis, D. Pullman.

1352T   A qualitative analysis of European clinical geneticists’ views of direct-to-consumer genetic testing. H. C. Howard, P. Borry.

1353T   Ethical issues related to high-throughput technologies for translation into clinical genetic testing. S. Julia, A. Soulier, E. Rial-Sebbag, A. Cambon-Thomsen, TECHGENE Consortium.

1354T   Public views of study design features for biobanks and large-scale genetic cohorts: results of a nationally representative conjoint analysis. D. Kaufman, J. Bollinger, J. Bridges, C. Buttorff, R. Dvoskin, J. Scott.

1355T   Public views of sample collection methods for biobanks. J. L'Heureux, J. C. Murray, C. M. Simon.

1356T   Diverse maternal perspectives of the return of results in pediatric genetic research: Results from formative research for the National Children’s Study. K. D. Lakes, E. Vaughan, A. Lemke, M. Jones, D. Baker, J. Swanson.

1357T   Returning research results: A deliberative engagement in South Side Chicago. A. Lemke, C. Halverson, L. Friedman Ross.

1358T   Exploring the ethics of incidental findings from whole genome studies: Understanding what research participants, genomic researchers and genetics professionals want. A. Middleton, M. Parker, H. Firth, N. Carter.

1359T   Informing the return of individual research results in biobanks and large-scale genetic studies: Results from a public survey. J. Murphy Bollinger, J. Bridges, G. Gallego, R. Dvoskin, J. Scott, D. Kaufman.

1360T   Consumer genetics in East Asia: Public attitudes and policy analysis. K. Muto, Y. Inoue, T. Arauchi, H. Hong, C. Chang, M. Sato.

1361T   Translational pathways for prenatal aneuploidy testing using cell-free fetal DNA. L. Sayres, M. Allyse, J. King, S. Kelly, M. Nunes, M. Cho.

1362T   Parental reflections on choice and decisions to accept newborn bloodspot screening. S. G. Nicholls.

1363T   How does the genetic test report format change physician decision making for at-risk relatives of cancer patients? S. Plon, B. Parks, H. P. Cooper, T. Wang, S. U. Dhar, S. Staggs, A. D. Weinberg, S. G. Hilsenbeck.


Genetics Education

 

1364T   OMIM.org, a new and improved website for online Mendelian inheritance in man. J. S. Amberger, F. J.-M. Schiettecatte, C. A. Bocchini, A. F. Scott, A. Hamosh.

1365T   The Human Variome Project — Collection of variation worldwide. R. G. H. Cotton, Collaborators of Human Variome Project.

1366T   Human resource training in medical genetics in Cuba. P. Lantigua-Cruz, N. Gonzalez-Lucas.

1367T   Impact of web-based case conferencing on cancer genetics training for community-based clinicians. K. Blazer, C. Christie, G. Uman, J. Weitzel.

1368T   Development and dissemination of a knowledge support service in genetics for primary care providers. J. C. Carroll, R. Grad, P. Pluye, N. Pimlott, J. Allanson, J. Permaul, B. Wilson.

1369T   Genetics Awareness Project promotes genetics education and genomic research participation in under-represented racial-ethnic groups in South Florida. K. Czape, C. Jean, M. Gavier, J. Lee, R. Martinez, L. D. Adams, D. Caldwell, K. Murphy, S. Hahn, K. Walz, M. L. Cuccaro, M. A. Pericak-Vance.

1370T   Biotech 101: An educational outreach program in genetics and biotechnology. K. M. East, A. M. Hott, N. P. Callanan, N. E. Lamb.

1371T   From genetics to genomics: The impact on national genetics education strategies for healthcare professionals in the UK. P. Farndon, D. Latham.

1372T   Teaching medical genetics in Nepal: Cultural implications and teaching strategies. J. Gair.

1373T   Testing the efficacy of conceptual change texts in undergraduate students’ understanding of genetics concepts. M. Glassford, B. Bowling, S. Barnes, S. Borgman, T. Beery, E. Reilly, C. Huether.

1374T   DNA: Key to diversity in animals and people festival. M. Godfrey, E. Mulkerrin.

1375T   Assessment of online health information seeking behavior to inform the development of the National Newborn Screening Clearinghouse. K. M. McWalter, A. K. Yu, L. E. Hasegawa, S. Scollon, S. M. Au.

1376T   Why students don't understand meiosis: An analysis of undergraduate textbooks. D. L. Newman, C. Catavero, L. K. Wright.

1377T   Cyanide and phenylthiocarbamide: Correlation with mid-phalangeal hair and color blindness in Saint Xavier community. T. Tatum Parker, D. Cramarosso, E. Barry.

1378T   The latent class analysis to clarify the factors associated with the structure of the public attitude toward the genome research. Z. Yamagata, T. Maeda, K. Muto, A. Nagai, A. Tamakoshi, I. Ishiyama.

1379T   Preference for genetic testing among patients offered participation in the Additional KIF6 Risk Offers Better Adherence to Statins Trial. S. L. Charland, B. C. Agatep, V. Herrera, E. J. Stanek.

1380T   Efficacy of knowledge of genetics in the field of psychiatry and its impact in patient treatment plan and option. H. Azimi.

1381T   Developing a national competence framework in the UK to support the delivery of non-invasive prenatal diagnosis. M. Bishop, J. Haydon, D. Latham, P. Farndon.

1382T   A comprehensive analysis of high school genetics standards: Are states failing to keep pace with modern genetics? M. Dougherty, C. Pleasants, L. Solow, A. Wong, H. Zhang.

1383T   Usability testing in the CFTR2 Web site. M. H. Lewis, P. Sosnay, F. VanGoor, H. Yu, R. Dorfman, J. Rommens, M. Corey, C. Castellani, C. M. Penland, R. Karchin, G. Cutting.


Health Services Research

 

1384T   Automated generation of diseases classification supported by Orphanet Ontology of Rare Diseases. F. Dhombres, S. Aymé, A. Rath, A. Olry, P. Y. Vandenbussche, J. Charlet.

1385T   Comparisons of disease risk assessment of direct consumer genetic services for Japanese individuals. T. Kido, M. Kawashima, S. Nishino, G. Sherlock, A. Butte.

1386T   Traditional bone setting and healing: Bane or blessing. P. Singh, P. P. Singh.

1387T   The influence of a positive family history of prostate cancer on the initial screening age, screening interval, and biopsy decisions in a population of PSA screened males. D. Cross, D. Reding, G. Aryal, K. Sparks, C. McCarty.

1388T   FGF8 mutation screening in patients with VCFS-like phenotype. I. C. Sgardioli, T. P. Vieira, M. Simioni, L. C. Souza, V. L. Gil-da-Silva-Lopes.

1389T   Quantitative and qualitative analysis of DNA from human blood samples stored at different temperature for different time intervals. S. Goyal, I. Bhadu, M. Rajpurohit, A. Raina, T. D. Dogra, A. Agarwal, R. P. Agrawal, S. Jain, D. Goyal.

1390T   Inauguration of a program for disorders of sex development in Cameroon (sub-Saharan Africa). A. Wonkam, W. Y. Joko, F. Mouafo, S. Dahoun, C. Ngongang, C. Lecoultre, J. Birreaux, B. Paturel, P. Y. Mure.

1391T   Improving quality of clinical services for patients with genetic susceptibility to breast cancer: An evidence-based approach. J. Jbilou, R. Landry, N. Amara, J. Simard.

1392T   A working model for developing countries towards fulfilling the promise of molecular medicine in the rare lethal genetic disorder, Duchenne muscular dystrophy. B. R. Lakshmi.

1393T   The Philippine Birth Defects Surveillance Project: A 3 year experience. C. Padilla, E. de la Paz, B. Cavan, C. Abarquez, R. Sales, A. Sur, J. Posecion, L. Orbillo, J. Basilio for Philippine Birth Defects Surveillance Study Group.

1394T   Microbial and genomic studies of A. indica (Neem) for medicinal purpose. I. Bhadu, S. Goyal, P. K. Ranga, D. Gupta, R. P. Agrawal, A. Agarwal, P. R. Jatkhar, V. Agarwal, H. Bhadu.

1395T   What genetic competencies are realistic and achievable for U.S. primary care providers? Qualitative study with key informants. N. Qureshi, K. Szegda, J. Kai.

1396T   The distribution of telomere length in buccal cells of healthy volunteers. Y. Shidoji, S. Yabuta, C. Sakane, M. Masaki.

1397T   Peculiarities of growth hormone and insulin-like growth factor (IGF-1, IGFBP-3) secretion in genetically determined types of short stature in Uzbek population. N. Sh. Ibragimova, S. I. Ismailov.

1398T   The NINDS Human Genetic Resource Center: A resource for the discovery of genetic risk factors for neurological disorders. C. Tarn, M. Self, E. Londin, E. Janeczko, A. Scutti, K. Reeve, K. Gwinn, R. Corriveau, M. D'Andrea.

1399T   Family history systems in primary care: A public engagement study. B. Wilson, S. M. Craigie, D. Castle, H. Etchegary, J. Allanson, D. Avard, J. C. Carroll, T. Caulfield, P. Chakraborty, L. Lemyre, J. Little, K. Morin, F. A. Miller, B. K. Potter, G. A. Wells.

1400T   The beta-thalassaemia carrier screening process in Australia: Is it acceptable? N. E. Cousens, C. L. Gaff, S. A. Metcalfe, M. B. Delatycki.

1401T   Establishing a theoretical financial framework for biobanks for the purpose of returning individual clinically significant genetic information to research participants. A. M. Peterson, M. E. Smith, S. Aufox, D. Dranove.

1402T   The MiSeq DNA sequencing platform and its application to public health. G. P. Smith, W. Meuleman, J. Betley, J. Becq, O. Schultz-Trieglaff, L. Murray, M. Bauer, F. Oaks, J. Yeager, MiSeq Program Team.

1403T   Candidate gene variants and susceptibility to infection by hepatitis A and E viruses in the U.S. population: Analysis using the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. L. Zhang, M. H. Chang, D. J. Hu, E. Teshale, N. F. Dowling, C. G. Teo.

1404T   Evaluation of cystine in urine samples for a diagnostic approach in Colombian cystinuria. L. Buitrago Alvarado, J. Benavides Sanchez, A. Uribe Ardila.

1405T   Newborn screening education: What information is important to expecting mothers? S. M. Craigie, B. K. Potter, B. J. Wilson, J. Allanson, D. Avard, M. Cappelli, J. C. Carroll, D. Castle, P. Chakraborty, H. Etchegary, J. Grimshaw, L. Lemyre, J. Little, J. Milburn, F. A. Miller, K. Morin, G. Wells.

1406T   Haptoglobin phenotypes in Saudi Arabia. S. Sayeeduddin.

1407T   Access to genetic health care: Qualitative study of new universal screening for sickle cell and thalassaemia disorders in England. J. Kai, F. Ulph, T. Cullinan, N. Qureshi.

1408T   Familial breast cancer: Risk communication, predictive testing and management in four European countries. I. Nippert, H. Harris, C. Julian-Reynier, J. Schmidtke, C. van Asperen, A. Tibben, D. G. Evans.

1409T   Developing and validating clinical genetics-specific patient reported outcome measures: Are we finally at the end of a long and winding road? M. McAllister, A. M. Wood, G. Dunn, K. Payne, L. Davies, S. Shiloh, C. Todd.

1410T   Impact of family history information on accuracy of cardiovascular disease prediction in middle aged women. Q. Hasanaj, BJ. Wilson, J. Little, Z. Montazeri, G. J. Prescott on behalf of CIHR Emerging Team in Genomics in Screening.

1411T   Weighted metrics for assessing quality of regional public health and clinical genetics services. J. Mulvihill, S. Whitehead, A. Chou, Genetics Systems Assessment Working Group.

1412T   Predictive genetic tests of alcohol intolerance for moderate and responsible drinking: Actions for reducing harmful drinking. Y. Ohta, S. Suzuki, F. Kato, M. Sami, T. Kanda, I. Kobayashi.

1413T   Medical genetics in Southeast Asia: Status and current drivers. J. K. Thompson, M. Laurino, D. L. Sternen, K. Leppig.

1414T   Cystic fibrosis carrier screening: Customer satisfaction study. L. Ditta, S. Egiziano, C. Salbe, M. Mattiuzzo, L. Tognetto, A. Brugnoli, G. Romagnosi, M. Gion, L. Bartoloni.

1415T   Recognizing health care needs of orofacial cleft individuals during genetics evaluation in Alagoas, Brazil. M. I. B. Fontes, K. M. Santos, J. I. Vieira Filho, A. K. M. Andrade, F. S. Anjos, T. P. Vieira, I. C. Sgardioli, N. L. V. Campos, I. L. Monlleó, V. L. Gil-da-Silva-Lopes.


Developmental Biology

 

1416T   Novel mouse models for hearing loss associated with proximal 1p36 deletions. H. Zaveri, B. J. Kim, O. A. Shchelochkov, F. A. Pereira, A. K. Groves, J. S. Oghalai, M. Justice, B. Lee, D. A. Scott.

1417T   Alternative polyadenylation: Gene mechanism to avoid miRNA regulation. C. Barbacioru, F. Tang, E. Nordman, E. Heard, K. Lao, A. Surani.

1418T   Understanding the anomalies in the development of the skull and craniovertebral junction in achondroplasia. F. Di Rocco, N. Kaci, E. Mugniery, C. Benoist-Lasselin, N. Litim, A. Munnich, L. Legeai-Mallet.

1419T   Loss of prolyl-3-hydroxylation at position 986 of type I collagen in transgenic mice has a negative effect on bone mass and structure. I. Grafe, D. Baldridge, E. Homan, T. Bertin, Y. Chen, M.-A. Weis, D. Napierala, T. Yang, B. Dawson, C. Lietman, E. Munivez, S. Chen, M. Grover, M.-M. Jiang, D. Eyre, B. Lee.

1420T   Consequences of gain-of-function mutations of ALK on central nervous system development. C. Gordon, L. de Pontual, D. Kettaneh, M. Oufadem, N. Boddaert, M. Lees, J. Mollet, A. Munnich, L. Brugičre, O. Delattre, M. Vekemans, S. Lyonnet, I. Janoueix-Lerosey, J. Amiel.

1421T   The nuclear receptor co-regulator, RERE regulates the development of the cerebellum. B. Kim, H. Zaveri, Z. Yu, O. A. Shchelochkov, M. Justice, B. Lee, D. A. Scott.

1422T   Intellectual disability-associated synaptic protein KIRREL3 interacts with MAP1B and Myr8. Y. F. Liu, S. M. Sowell, Y. Luo, A. K. Srivastava.

1423T   Aristaless brain diseases: A class of pathologies associated with an altered GABAergic homeostasis? L. Poeta, D. Drongitis, F. Fusco, M. Paciolla, S. Filosa, P. Collombat, M. B. Lioi, M. V. Ursini, M. G. Miano.

1424T   Candidate gene effects on human craniofacial variation in males and females. S. F. Miller, D. Defay, S. Weinberg, C. Kummet, J. C. Murray, M. L. Marazita, G. L. Wehby, L. M. Moreno.

1425T   The ciliary kinase Nek8 is required for Polycystin2-mediated signaling. D. R. Beier, D. K. Manning, R. G. H. P. van Heesbeen, M. Sergeev, I. A. Drummond, J. V. Shah.

1426T   Exploiting the Mid1 null mouse line to understand cerebellar development. G. Meroni, F. Petrera, D. Licastro, A. Lancioni, R. Ferrentino, C. Migliore, M. Zanchetta.

1427T   Analysis of time-series embryonic diaphragm transcriptomes identifies Pbx1 as a candidate gene for diaphragmatic defects. M. Russell, M. Longoni, J. Wells, F. Maalouf, A. Tracey, K. Ackerman, B. Pober, K. Lage, C. Bult, P. Donahoe.

1428T   Deletion of PAX6 entire gene in a patient with aniridia. E. S. S. França, M. S. Guaragna, A. T. Maciel-Guerra, G. Guerra-Júnior, M. P. de Mello.

1429T   Knock-down of Zic2 in embryonic stem cells blocks neural differentiation through its effects on miRNA expression. L. Brown, S. Brown.

1430T   Asymmetric expression of Claudin-10 is required for correct patterning of the left-right axis. M. M. Collins, A. Simard, A. K. Ryan.

1431T   NOTCH signaling pathway and holoprosencephaly: A transcriptomic approach using chick model. V. David, L. Ratié, I. Gicquel, S. Mercier, C. Dubourg, S. Odent, V. Dupé.

1432T   Assisting research into human embryonic and fetal development. D. Gerrelli, S. Suren, V. Morrison, Y. Cheng, L. Overman, M. Crosier, S. Lisgo, S. Lindsay, A. J. Copp.

1433T   Is TMED2 essential in the chorion for normal interaction between the allantois and the chorion in mice? W. Hou, D. Sarikaya, L. Jerome-Majewska.

1434T   Genome-wide screening of mesenchymal signaling molecules involved in epithelial differentiation during mice palatogenesis. K. Kwon, W. Sohn, H. Kim, M. Choi, Z. Ryoo, S. Lee, J. Kim.

1435T   Epithelial splicing regulatory proteins 1 and 2 regulate alternative splicing events during mouse embryogenesis. T. Revil, L. A. Jerome-Majewska.

1436T   Signaling modulations of Rgs19 in palatal EMT process. W. Sohn, Y. Ji, H. Kim, K. Kwon, C. An, H. Park, H. Jung, Z. Ryoo, S. Lee, J. Kim.

1437T   Reprogramming senescent fibroblasts from Werner syndrome for studying premature aging. H. Cheung, X. Liu, O. M. Rennert.

1438T   Molecular genetic studies of planar polarity gene SCRIBBLE1 in neural tube defects. F. Kharfallah, A. Radouane, P. De Marco, E. Merello, V. Capra, Z. Kibar.

1439T   Dysregulation of DNA damage repair and cell cycle checkpoint control pathways as a mechanism for cleft lip/palate. G. S. Kobayashi, L. A. Cruz, D. Y. Sunaga, D. F. Bueno, S. G. Ferreira, M. Aguena, L. A. Andrade-Lima, C. F. Menck, M. R. Passos-Bueno.

1440T   Allele specific expression single cell RNA-Seq analysis. K. Lao, F. Tang, C. Barbacioru, E. Nordman, S. Bao, C. Lee, X. Wang, B. Tuch, E. Heard, M. Surani.

1441T   Genomic and genetic analyses define causative elements of two developmental defects in an avian biomedical model. E. A. Robb, M. E. Delany.

1442T   Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish. Q. Yuan, B. T. Chiquet, L. Devault, M. L. Warman, Y. Nakamura, E. C. Swindell, J. T. Hecht.

1443T   Identification of the Danforth’s short tail mouse mutation using next-generation sequencing. C. N. Vlangos, A. N. Siuniak, D. Robinson, A. M. Chinnaiyan, J. D. Cavalcoli, R. H. Lyons, C. E. Keegan.

1444T   Direct or indirect stimulation of an epigenetic change in bladder urothelial cells in response to uropathogenic E. coli infection. A. Kapila, C. Tolg, B. Weber, N. Sabha, R. Cortese, T. Panchal, A. Petronis, K. J. Aitken, D. J. Bägli.

1445T   Evidence of NFIA as a dosage-sensitive gene involved in central nervous system development and neurobehavioral functioning. K. Hovanes, M. N. Strecker, M. Dasouki, E. Youngs, D. Superneau, S. Hunkapillar, P. Miner, C. Munn, G. Hoganson, S. Gunn.

1446T   Small RNA deep sequencing reveals co-ordinate expression of microRNAs and argonaute-2 during mammalian embryogenesis. P. N. Valdmanis, H. Kim, B. Roy-Chaudhuri, Y. Pouliot, M. A. Kay.

1447T   Identification and characterization of endogenous LXR ligands in ventral midbrain development. S. Theofilopoulos, K. Karu, S. Kitambi, P. Sacchetti, K. Sousa, J. Sjovall, W. Griffiths, E. Arenas.

1448T   Spga-lncRNA3, a novel lncRNA that regulates developmental programs of spermatogonial stem cells. T. Lee, W. Chan, O. Rennert.

1449T   Notch signaling during chondrogenesis. S. Chen, J. Tao, M. Jiang, T. Bertin, B. Lee.

1450T   WT1 suppresses EZH2 during early nephrogenesis. M. M. Akpa, L. L. Chu, D. M. Iglesias, P. R. Goodyer.

1451T   EnSpm-N6_DR DNA transposons shape the repertoire of p53 target genes in zebrafish. M. Loviglio, L. Micale, C. Fusco, A. Calcagně, B. Augello, G. Cotugno, E. V. D'Addetta, G. Merla.

1452T   Modeling developmental eye defects using zebrafish. L. A. Schimmenti, J. Hatler, E. Speltz, A. Spahn, S. Lerach.

1453T   Ofd1 controls dorso-ventral patterning in the brain and plays a developmental stage dependent role in ciliogenesis. B. Franco, A. D'Angelo, A. De Angelis, B. Avallone, I. Piscopo, M. Studer, R. Tammaro.


Cancer Cytogenetics

 

1454T   Novel intergenic trans-splicing generating double fusion transcripts in a case of chronic myeloid leukemia in blast phase with the t(7;17) translocation. S. Hazourli, J. Hébert.

1455T   Treatment outcome with sequential radiotherapy and chemotherapy based on loss of heterozygosity in both chromosomes 1p and 19q in anaplastic oligodendroglioma. H. O. Shah, A. Yuil, A. Pigal, M.-L. Desormeaux, W. Gebre, L. Freedman.

1456T   Identification of genetics alterations in colorectal cancer patients in Tamil Nadu population, India. V. Balachandar, M. Arun, P. Manikantan, K. Sasikala, P. Varsha, S. N. Dharwadkar, P. Singaravelu.

1457T   CGH+SNP microarrays for copy-neutral aberration detection in cancer research. P. Costa, B. Curry, B. Peter, P. Anderson, N. Sampas, S. Giles, A. Ashutosh, A. Vadapalli, A. Ijpma, J. Ghosh, S. Fulmer-Smentek, A. De Witte.

1458T   Analysis of cytogenetic aberration in children with acute lymphoblastic leukemia in relation to other prognostic factors. E. Maly, M. Przyborska, K. Derwich, O. Spychaka, D. Januszkiewicz.

1459T   Blastic plasmacytoid dendritic cell neoplasm caused by loss of genomic DNA copy numbers in the p18, p16, p27 and RB loci. N. Oiso, Y. Tatsumi, T. Arao, S. Rai, M. Kimura, S. Nakamura, K. Nishio, I. Matsumura, A. Kawada.

1460T   Detection of chromosome alteration and RB1 gene polymorphisms in retinoblastoma patients, India. P. Varsha, V. Balachandar, S. Mohana Devi, K. Sasikala.

1461T   Abnormal signal patterns involved in t(12;21) TEL-AML1 in childhood acute lymphoblastic leukemia patients. O. Altiok Clark, C. F. Sargin Özkaya, S. Yakut, Z. Cetin, A. Kupesiz, G. Tezcan, V. Hazar, G. Luleci, S. Berker Karauzum.

1462T   Ten years experience of ctogenetic investigation in Tunisian leukemic patients. W. Ayed, O. Kilani, N. Ben Romdhane, S. Ladab, L. Torjmane, A. Lakhal, H. Guermani, N. Abidli, F. Talmoudi, T. Ben Othmen, S. Abdelhak, A. Amouri.

1463T   High-resolution confirmation of balanced RARA gene rearrangements in acute promyelocytic leukemia by using array CGH. B. C. Ballif, A. Gruver, R. R. Tubbs, J. R. Cook, J. H. Rogers, J. R. Batanian, A. Furrow, L. G. Shaffer, R. A. Schultz.

1464T   Evaluation of chromosomal instability in patients with Langerhans cell histiocytosis. L. Bobadilla-Morales, E. Franco-Perez, R. Silva-Cruz, J. L. De León-Rendón, C. Barba-Barba, V. Soto-Chavez, F. Sánchez-Zubieta, A. Corona-Rivera.

1465T   A simple technique significantly improves the success rate of chromosome analysis from solid tumors. H. Chaker, D. Turmel, R. Fetni.

1466T   Cytogenetic studies in 84 pediatric neuroepithelial central nervous system tumors in a single institution in Argentina. M. C. Coccé, F. Lubieniecki, D. Alderete, M. S. Gallego.

1467T   t(X;1) and 5q- from a mediastinal teratoma in a Klinefelter syndrome patient. A. Corona-Rivera, C. Barba-Barba, M. D. Martinez-Albarran, E. Corona-Bobadilla, H. J. Pimentel-Gutierrez, C. Ortega-de-la-Torre, F. Sanchez-Zubieta, L. Bobadilla-Morales.

1468T   Evaluation of MLPA and SISH as two alternative methods for assessing ERBB2 gene amplification status in breast cancer patients. C. Durajczyk, L. Carson, S. Tennant, P. Batstone, D. Stevenson.

1469T   Detection of telomerase genes (hTERC and hTERT) amplification by FISH in patients with acute myeloid leukemia. M. M. Eid, N. A. Helmy, I. M. Omar, A. A. Mohamed, D. El Sewefy, I. M. Fadel, R. Helal.

1470T   Detection of cytogenetics abnormalities in chronic lymphocytic leukemia using FISH technique and their prognostic impact. O. M. Eid, M. M. Eid, H. F. Kayed, W. M. Ahmed.

1471T   Coexistence of t(12;21)(p13;q22)/ETV6-RUNX1 and MLL rearrangement in a pediatric patient with B-lymphoblastic leukemia. M. Hiemenz, W. Chen, N. Winick, C. Tirado.

1472T   Juvenile xanthogranuloma with clonal proliferation in the bone marrow. D. Januszkiewicz, E. Maly, M. Przyborska, A. Rybczynska, B. Konatkowska, J. Nowak.

1473T   FOXO1-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma. J. Liu, M. Guzman, D. Pezanowski, D. Patel, J. Hauptman, M. Keisling, J. Hou, P. Papenhausen, J. Pascasio, H. Punnett, G. Halligan, J.-P. de Chadarévian.

1474T   Recurrent cytogenetic aberrations predict MYC breakpoints in diffuse large B-cell lymphoma and help define Burkitt lymphoma versus diffuse large B-cell lymphoma with MYC rearrangement. D. Martinez, R. Garcia, P. Koduru, C. A. Tirado.

1475T   Proposed FISH panel with diagnostic and prognostic significance for prostate cancer. N. Mitter, J. Belanger, J. Blackson, A. Singh, A. Lindia, J. Amberson.

1476T   ALK rearrangements in non-small cell lung cancer. J. J. D. Morrissette, V. Aikawa, J. P. Segal, C. Deshpande.

1477T   An unusual myeloid case involving hyperdiploidy. C. Murray, L. Hendry, H. Roddie, R. Bauld, G. Bakirtzis, J. Fleming, J. Iremonger, E. Maher.

1478T   Gene expression profile of AURKA and AURKB in chronic lymphocytic leukemia: Correlation with classical cytogenetic and hematological parameters. F. Oliveira, A. R. Lucena de Araújo, F. Saldanha-Araújo, E. Magalhăes Rego, R. Passetto Falcăo.

1479T   Frequent cytogenetic alterations in a series of myelodysplastic syndrome cases. S. P. Perdomo, L. C. Pardo, Y. Guevara, C. Fajardo, T. I. Roncancio.

1480T   Evaluation of AURKB gene amplification status in breast cancer samples. R. M. Rodrigues-Peres, J. K. Heinrich, R. G. Paleari, J. Vassallo, L. O. Sarian.

1481T   Strategy using SNP array and interphase FISH for the detection of genetic prognosis factors in neuroblastoma. M. Roy-Tourangeau, M.-P. Arsenault, C. Nyalendo, S. Cournoyer, P. Teira, M. Duval, H. Sartelet, R. Fetni.

1482T   Chromosomal alterations detected by conventional cytogenetic and FISH in leukemias. F. J. Sheth, M. J. Desai, A. P. Patel, S. B. Mehta, J. J. Sheth.

1483T   Acute promyelocytic leukemia with a novel variant (15;17) rearrangement. A. Zaslav, M. Bellone, B. Kiner-Strachan, M. Golightly, T. Mercado, Y. Hu.

1484T   Increased molecular cytogenetic (FISH) abnormality detection rate using plasma cell enriched cell sorting for plasma cell disorders. S. Zneimer, M. Sasaki.

1485T   Gene expression and SNP array analyses of spindle cell lipomas and conventional lipomas with 13q14 deletion. H. Bartuma.

1486T   Aberrant translocations t(3;17)(q22;p13) and t(5;21) (q13;q22) in a case of Ph-positive chronic myeloid leukemia during blastic transformation. A. Bennour, M. Zaier, I. Azzouz, I. Ouahchi, Y. Ben Youssef, A. Khelif, A. Saad, H. Sennana.

1487T   The first case of Philadelphia-negative acute promyelocytic leukemia following imatinib for chronic myeloid leukemia. J. J. W. Wakim, C. A. T. Tirado, W. C. Chen.

1488T   Detection of exonic copy-number changes by high resolution array-CGH of human cancer genes. H. Chong, A. Elliott, A. Kammesheidt.

1489T   Automating the dropping process to generate quality metaphase spreads in preparation for fluorescence in situ hybridization. B. Kirk, A. Avila, T. Tisone, K. Sundin, D. Buller, C. Glotzbach, C. Kashork.

1490T   Comprehensive genetic diagnosis of B-cell chronic lymphocytic leukemia. Y. Y. Wen, X. F. Hu, M. M. Li.

1491T   Retrospective microarray analysis in diagnostic acute myeloid leukemia. C. M. Higgins, D. L. Pickering, J. M. Stevens, W. G. Sanger, B. J. Dave.

1492T   Cytogenetic monitoring by use the micronucleus assay and the chromosomal aberrations test among Tunisian hospital staff exposed to low dose of ionizing radiation. S. Bouraoui, A. Drira, H. Ben Khelifa, M. Gribaa, N. Bouali, R. Berguiga, I. Ben Abdallah, S. Brahem, A. Bennour, O. Mamai, N. Mrizek, F. Tabka, H. Elghezal, A. Saad.