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 Crohns 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 Crohns 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 Crohns 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 Alzheimers 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 Parkinsons 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 Parkinsons 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 Parkinsons 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 Alzheimers 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 Parkinsons 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 Alzheimers 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 Crohns 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 Cloningers 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 factorα 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 Womens 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 Parkinsons 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.
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 Crohns 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.
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 Alzheimers 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 Womens 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.
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 Torrents personal genome machine coupled with Fluidigms 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 Illuminas 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 Roches 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 worlds 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 Columbias 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.
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.
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.
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 Childrens 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.
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.
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 Danforths 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.
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.