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Cardiovascular Genetics


325W   Genotype-phenotype correlation in hypertrophic cardiomyopathy: Evaluation of a new slice mutation by minigene functional assay. E. Maioli, M. Marini, M. I. Parodi, M. L. Galli, M. Castagnetta, D. A. Coviello, R. Ravazzolo, P. Spirito, L. Perroni.

326W   BRAP, encoded by a gene associated with myocardial infarction, binds several key inflammatory molecules. K. Ozaki, Y. Onouchi, Y. Nakamura, T. Tanaka.

327W   Hierarchical clustering of genetic variants according to their effect size on multiple lipid phenotypes. J. Engert, S. Bailey, P. Lee, N. Rudzicz, I. Karp.

328W   Unraveling the genetics behind lymphedema with whole exome sequencing and near-infrared fluorescence imaging. M. L. Gonzalez-Garay, C. T. Caskey, E. M. Sevick, O. Hall, C. E. Fife, E. A. Maus.

329W   Genome-wide association study of transcripts for genes implicated in GWAS studies for coronary artery disease and blood phenotypes. C. J. O’Donnell, A. D. Johnson, A. Hendricks, S. Hwang, J. E. Freedman, X. Zhang.

330W   Genetic determinants of multiple circulating inflammatory biomarkers and their relationship to incident heart failure. V. K. Topkara, J. Chu, C. C. Gu.

331W   Assessment of a possible relation between osteoporosis and hypertension in spontaneously hypertensive rats and recombinant inbred strains. R. El Bikai, P. Dumas, J. Peng, S. Koltsova, V. Křen, M. Pravenec, O. Seda, J. Tremblay, P. Hamet.

332W   Associations between fibrinolysis pathway genes and ischemic stroke in young adults. Y. Cheng, Y. J. Kim, J. W. Cole, S. J. Kittner, B. D. Mitchell.

333W   FBN1 and TGFBR2 mutations in patients with bicuspid aortic valve. N. R. Abdulkareem, G. Arno, J. A. Aragon-Martin, A. H. Child, M. Jahangiri.

334W   Association study of Fms-related tyrosine kinase 1 (FLT-1) gene polymorphisms with the occurrence of coronary artery disease in Koreans. P. Ahram, S. Dong-Jik, P. Boram, S. Nak-Hoon, L. Jin-Woo, K. Jisun, P. Sungha, L. Sang-Hak, J. Yangsoo.

335W   The genetics of dilated cardiomyopathy: A prioritized candidate gene study. K. Desbiens, N. Giannetti, I. Ruel, J. Genest, J. Engert.

336W   Knockouts of the murine ortholog of the atypical Williams-Beuren tyrosine-protein kinase gene Baz1b present cardiac and circadian rhythm impairments. G. Didelot, C. Berthonneche, A. Sarre, Y. Emmenegger, P. Franken, T. Pedrazzini, A. Reymond.

337W   Association of PLA2G4A with myocardial infarction is modulated by dietary polyunsaturated fatty acids. J. Hartiala, S. Vikman, E. Gilliam, H. Campos, H. Allayee.

338W   Variation at the INSIG2 gene is associated with myocardial infarction in multiple ethnicities of the INTERHEART study. S. Hooda, R. Do, G. Pare, A. Montpetit, N. Rudzicz, T. Hudson, S. Yusuf, S. Anand, J. Engert.

339W   Vitamin D association of sequence variants in the SVEP1 gene and the prediction of mortality and myocardial infarction. B. D. Horne, J. B. Muhlestein, J. F. Carlquist, D. J. Rader, H. T. May, M. P. Reilly, J. L. Anderson.

340W   Prediction of vitamin D levels using three significant SNPs from a genome-wide association study. S. Knight, J. L. Anderson, B. D. Horne, H. T. May, J. Huntinghouse, J. F. Carlquist, J. B. Muhlestein.

341W   Rare recurrent DNA copy number variants associated with syndromic cardiovascular malformations. S. R. Lalani, C. Shaw, X. Wang, A. Patel, L. W. Patterson, K. E. Kolodziejska, P. Szafranski, Z. Ou, Q. Tian, S. L. Kang, A. Jinnah, A. M. Baycroft, S. Ali, A. Malik, P. Hixson, L. Potocki, J. R. Lupski, P. Stankiewicz, C. A. Bacino, B. Dawson, A. L. Beaudet, F. M. Boricha, R. Whittaker, C. Li, S. M. Ware, S. W. Cheung, J. L. Jefferies, J. W. Belmont.

342W   Excess of deleterious mutations in genes associated with VEGF-A in Down syndrome-related heart defects. C. L. Maslen, D. Babcock, B. Reshey, J. Thusberg, S. Mooney, E. Feingold, R. H. Reeves, S. L. Sherman.

343W   Defining a new syndrome of arterial calcification with segmental sclerosis: A systems approach to diagnosis. K. Menghrajani, D. Yang, C. Shuen, T. Markello, R. Rupps, M. Boehm, W. A. Gahl, C. F. Boerkoel.

344W   Investigation of the role of PLXNA2 in genetic susceptibility to congenital heart disease. O. Migita, A. C. Lionel, C. R. Marshall, S. W. Scherer, C. K. Silversides, A. S. Bassett.

345W   Association of genomic loci from a cardiovascular gene SNP array with plasma B-type natriuretic peptide concentration in African Americans: The Jackson Heart Study. S. K. Musani, V. S. Ramachandran, A. Bidulescu, H. Nagarajarao, P. Singh, T. E. Samdarshi, M. W. Steffes, H. A. Taylor, E. R. Fox.

346W   Screening for microdeletions and sequencing candidate genes associated with conotruncal heart defects. K. Osoegawa, D. M. Iovannisci, M. B. Ladner, K. Schultz, C. Parodi, F. Cohen, D. Noonan, A. Borg, G. M. Shaw, E. Trachtenberg, E. J. Lammer.

347W   Exome sequencing and linkage filters identify novel candidate mutations in a family with left-ventricular non-compaction. S. Pan, R. Chen, M. Perez, K. Sallam, A. Pavlovic, F. Haddad, M. Snyder, E. Ashley.

348W   Novel associations of SNPs and transcripts with paraoxonase activity in Mexican American families. E. E. Quillen, D. L. Rainwater, T. D. Dyer, M. A. Carless, J. E. Curran, M. P. Johnson, H. H. H. Goring, J. W. MacCluer, E. K. Moses, J. Blangero, L. Almasy, M. C. Mahaney.

349W   Hunting for novel dilated cardiomyopathy genes using haplotype sharing and exome sequencing. R. J. Sinke, A. Pósafalvi, K. Y. van Spaendonck-Zwarts, J. P. van Tintelen, P. A. van der Zwaag, L. G. Boven, J. J. Bergsma, W. B. Koetsier, D. J. van Veldhuisen, M. P. van den Berg, R. M. W. Hofstra, J. D. H. Jongbloed.

350W   Massively parallel sequencing of the mitochondrial genome in patients with pediatric cardiomyopathies. M. Tariq, V. W. Zhang, F. Scaglia, L. J. Wong, S. M. Ware.

351W   Mutation in MYOF: A new cardiomyopathy gene? M. Wallace, M. Burch.

352W   Replication study of prior GWAS candidate genes/loci for coronary artery diseases in the genetic isolated Newfoundland and Labrador population. Y. Xie, J. Cui, E. Randell, J. Renouf, S. Li, A. Pope, S. Sun, W. Gullive, F. Han.

353W   SNP-based genome-wide analysis identifies a novel EFEMP2 mutation in four unrelated families with dilatation of the ascending aorta. Z. Al-Hassnan, S. Tulbah, A. Hakami, S. Mohammed, A. Al-Omrani, A. Almesned, M. Al-Fayyadh.

354W   A study of the adiponectin Q as a susceptibility gene for atherosclerosis. M. Al-Najai, M. Vigilla, E. Andres, S. Elhawari, D. Gueco, P. Muiya, N. Mazher, B. F. Meyer, M. Alshahid, N. Dzimiri.

355W   Thrombospondin 4 gene harbours a common susceptibility locus for atherosclerosis and its risk traits. M. M. Alrasheed, M. G. Vigilla, D. Gueco, P. Muiya, S. Elhawari, M. Al-Najai, E. Andres, B. F. Meyer, M. Alshahid, N. Dzimiri.

356W   Identification of additional genetic factors contributing to LQTS in the First Nations population in Northern BC. L. Arbour, S. Asuri, S. McIntosh, L. Fields.

357W   Genome-wide association study of hypertension in a diverse population. G. Beecham, A. Patel, N. Sikka, M. Nakamura, P. Goldschmidt-Clermont, M. Pericak-Vance, D. Seo.

358W   A genome-wide association study of carotid intima-medial thickness: A surrogate marker for cardiovascular disease. S. H. Blanton, A. H. Beecham, L. Wang, C. Dong, D. Della-Morte, D. Cabral, M. Elkind, R. Sacco, T. Rundek.

359W   Renin gene polymorphism modulates extent of hypertrophy in hypertrophic cardiomyopathy, independent of blood pressure. N. Carstens, L. Van der Merwe, M. Revera, M. Heradien, A. Goosen, P. A. Brink, J. C. Moolman-Smook.

360W   Blood pressure and retinal arterial narrowing: Assessing causality through Mendelian randomization. C. Y. Cheng, X. Sim, M. K. Ikram, B. Cornes, J. J. Wang, P. Mitchell, Y. Y. Teo, S. M. Saw, T. Aung, E. S. Tai, T. Y. Wong.

361W   A genome-wide gene expression association study of young-onset hypertension in Han Chinese population of Taiwan. K. M. Chiang, H. C. Yang, J. W. Chen, W. H. Pan.

362W   Cardiomyopathy and sudden cardiac death in Newfoundland. F. Curtis, S. Connors, A. Williams, J. Houston, T. Young, K. Hodgkinson.

363W   Marfan Syndrome: A comparison of the Ghent nosologies. J. Dean, J. Crow, W. Lam.

364W   The complex genetics of ARVC/D in Maritime Canada. S. Dyack, J. Hathaway, A. Crowley, C. Gray, M. Gardner.

365W   Clinical, cytogenetic and molecular studies in Egyptian children with congenital heart disease. M. O. El Ruby, S. El-Seaady, N. Helmy, H. Hussein, A. El-Gerzawy, A. Fayez, G. Noreldin, A. Abdel-Rahman, N. Ismaeil, M. Kobeisy, R. Lotfy, A. El Darsh, I. Hussein.

366W   Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden death. K. E. Erskine, L. Cohen, M. Stolerman, E. Paljevic, C. A. Walsh, T. V. McDonald, R. W. Marion, S. M. Dolan.

367W   Identification of EGFR polymorphisms that interact with body weight and systolic blood pressure in young Finnish adults and the prevalence of hypertension in elderly Canadians. M. Fan, T. Lehtimaki, O. Raitakari, M. Kähönen, R. W. Davies, L. Chen, G. A. Wells, R. McPherson, R. Roberts, A. F. R. Stewart.

368W   Prioritized-GWAS based on linkage information identifies novel putative loci influencing coagulation. F. Gagnon, A. Dimitromanolakis, G. Antoni, A. Martinez, N. Greliche, A. de Buil, J. M. Soria, P. E. Morange, P. S. Wells, D. A. Tregouet, L. Sun.

369W   Association of e2, e4 alleles of polymorphism Apo E in Mexican preeclampsia patients. M. Gallegos, Jr., A. Acevedo, L. E. Figuera, A. M. Puebla, G. M. Zuńga.

370W   Does genetics add value? Our experience of cardiac genetics referrals at Loma Linda University Medical Center Center in the USA, highlighting the need for a protocol for cardiac genetic work-ups. J. Gold, S. Ramanathan, J. Bartley, L. Bailey, R. Clark.

371W   Genome-wide association study for resting heart rate: Variants detection and replication. B. Gombojav, D. H. Lee, Y. S. Ju, J. I. Kim, J. S. Seo, M. Lee, Y. M. Song, K. Lee, J. Sung.

372W   Salt-sensitivity of blood pressure is strongly associated with polymorphisms in the sodium-bicarbonate symporter. L. Gordon, R. Carey, C. Schoeffel, J. Gildea, J. Jones, H. McGrath, M. Park, S. Williams, P. Jose, R. Felder.

373W   ENPP1 polymorphisms influence the risk of developing calcific aortic valve stenosis. S. Guauque-Olarte, V. Ducharme, N. Gaudreault, P. Pibarot, P. Mathieu, Y. Bossé.

374W   ABCA1 gene promoter DNA methylation is associated with a deterioration of HDL-cholesterol metabolism in familial hypercholesterolemia. S. Guay, D. Brisson, J. Munger, D. Gaudet, L. Bouchard.

375W   LQTS in Northern BC: A more severe cardiac phenotype but minimal impact on auditory function with homozygosity for KCNQ1 V205M rules out Jervell and Lange Nielson syndrome. H. Jackson, S. Lauson, R. Rupps, S. McIntosh, B. Casey, A. Tang, L. Arbour.

376W   Assumption-free heritability estimates of electrocardiographic measures in the TwinsUK study. Y. Jamshidi, I. M. Nolte, H. Riese, P. van der Harst, F. W. Asselbergs, T. D. Spector, H. Snieder.

377W   Genes and viruses in idiopathic (dilated) cardiomyopathy: A pilot study. I. P. C. Krapels, Y. H. J. M. Arens, A. T. J. M. Helderman-van den Enden, C. Eurlings, R. Jongbloed, A. van den Wijngaard, S. R. B. Heymans.

378W   Genetic testing for dilated cardiomyopathy in the United States: A health technology assessment. A. Lea, S. Levine, D. Allingham-Hawkins.

379W   MYLK and INK4/ARF genes are the susceptibility genes of cerebral small vessel disease in Chinese population. W. Li, G. Li, X. Zhao, B. Xin, J. Lin, Y. Shen, X. Liang, H. Gao, X. Liao, Z. Liang, Y. Wang.

380W   Novel ACTA2 mutation in a large family with familial thoracic aortic aneurysms and dissections exhibiting reduced penetrance in a female carrier. M. A. McGinniss, H. Wang, J. N. Young, R. Calhoun, S. Mayberg, J. Martinezmoles, A. W. Grix, B. A. Westerfield, L. S. Pena, D. J. Penny, Y. Fan, S. A. Boyadjiev.

Complex Traits: Theory and Methods


381W   Single nucleotide polymorphisms analysis of INSL3 and RXFP2 genes in Mexican patients with idiopathic cryptorchidism. M. D. Chávez-Saldańa, J. C. Gutiérrez, I. Zamora, O. Cuevas, J. Rojas, O. Gutiérrez, E. Yokoyama, R. M. Vigueras.

382W   Molecular markers for effective prognosis in systemic lupus erythematosus patients at risk of renal and cardiovascular diseases. R. Chandirasekar, K. Sasikala, D. Nedumaran, K. Suresh, R. Jayakumar, R. Venkatesan, B. Laksmankumar, G. Karthik, S. Arun.

383W   Dynamic modularity beyond “date” and “party” hubs in protein-protein interaction networks. X. Chang, K. Wang.

384W   Testing for a mixture of effects on either disease or quantitative traits across a set of rare variants. G. Clarke, A. Morris.

385W   Pathway association analysis using an overall test for the most promising SNPs. M. Mattheisen, W. Yip, P. Lipman, C. Lange.

386W   Modeling of the interaction between the serotonin regulation pathway and the stress response, mediated by the hypothalamic-pituitary-adrenal axis, using a Boolean approximation: A novel study for depression. O. A. Moreno-Ramos, M. C. Lattig, A. F. Gonzalez.

387W   Large-scale transcriptome study in the Sardinian founder population. M. Pala, M. Marongiu, A. Mulas, R. Cusano, F. Crobu, F. Reinier, R. Berutti, M. G. Piras, C. Jones, D. Schlessinger, G. Abecasis, A. Angius, S. Sanna, F. Cucca.

388W   Development and use of a pipeline to generate strand and position information for common genotyping chips. N. W. Rayner, M. I. McCarthy.

389W   Association of endothelial nitric oxide synthase gene haplotypes with systemic lupus erythematosus in Kuwaiti Arabs. M. Haider, S. Alfadhli, B. Altamimy, K. Alsaeid.

390W   FRIZZLED mutations in patients with neural tube defects. V. Capra, P. De Marco, E. Merello, G. Piatelli, A. Cama, Z. Kibar.

391W   Replication of a FOXP2 association with motor sequencing during an oral task in families with familial speech sound disorder. B. Peter, M. Matsushita, K. Oda, W. Raskind.

392W   Relative impact of genetic and epigenetic factors on gene expression in tumor tissue samples. H. Dong, L. Jin, M. Xiong.

393W   eNOS (27bp deletion/insertion in intron 4) and Mn-SOD (p.Val16Ala) polymorphisms analysis in type 2 diabetic retinopathy patients from North India. P. Badhan, V. Vanita.

394W   NTF4 mutations in primary open-angle glaucoma. L. Chen, T. Ng, P. Tam, A. Fan, M. Zhang, C. Tham, N. Wang, D. Lam, C. Pang.

395W   Integrating gene expression data with genome-wide association studies to identify novel asthma susceptibility candidate genes. D. A. Cusanovich, C. Billstrand, C. Chavarria, K. Michelini, A. A. Pai, C. Ober, Y. Gilad.

396W   Genome-wide linkage and association analyses in uterine leiomyomata reveal FASN as predisposition gene. S. L. Eggert, R. Kavalla, K. L. Huyck, P. Somasundaram, E. A. Stewart, A. T. Lu, J. N. Painter, G. W. Montgomery, S. E. Medland, S. A. Treloar, L. Rose, P. M. Ridker, D. I. Chasman, N. G. Martin, R. M. Cantor, C. C. Morton.

397W   Association of gene variants and biochemical markers with chronic obstructive pulmonary disease. A. Jyothy, B. Ashrafunnisa, A. Venkateshwari, A. Munshi, S. V. Prasad.

398W   A family-based association study between vitiligo and positional candidate genes EDNRA, PTPN12, PTK2B and ADAM9. L. Nascimento, C. Silva de Castro, R. Werneck, M. Mira.

399W   CNV screening identifies chromosomal regions of interest and candidate genes in patients with orofacial clefts. M. Simioni, T. K. Araujo, C. V. Maurer-Morelli, I. Lopes-Cendes, V. L. Gil-da-Silva-Lopes.

400W   Analysis of VEGF (-634 C/G and 936 C/T) polymorphisms in T2D retinopathy patients from North India. H. Singh, V. Vanita.

401W   Angiotensin converting enzyme gene I/D polymorphism analysis in type 2 diabetic retinopathy patients from North India. V. Vanita, H. Singh, I. R. Singh, J. R. Singh.

402W   Genetically determined metabotypes in the context of complex diseases. C. Gieger, S.-Y. Shin, A.-K. Petersen, G. Zhai, T. D. Spector, N. Soranzo, K. Suhre.

403W   Elucidating gene pathways underlying insulin resistance using integrated approaches of genome-wide association study, expression QTLs and pathway analysis. K. Hao, X. Yang, J. W. Knowles, T. L. Assimes, H. J. Cordell, W. Xie, M. N. Weedon, H. Zhong, T. M. Frayling, L.-T. Ho, M. Keller, D. M. Greenawalt, D. M. Kemp, F. Abbasi, E. Ferrannini, J. Paananen, E. Ingelsson, L. M. Kaplan, P. S. Tsao, A. Attie, P. Lum, E. E. Schadt, M. Laakso, M. Walker, A. Hsiung, T. Quertermous, GENESIS, EUGENE2, SAPPHIRE, ULSAM, RISC.

404W   Genome-wide association study on the variation of quantitative trait may help identify important genetic variants for complex diseases: An example of CHD risk in T2D patients. Z. Liu, Q. Qi, F. Hu, L. Qi, L. Liang.

405W   Sub-phenotyping via Metropolis-coupled MCMC to improve the power in association studies. Z. Geng, S. Zölllner.

406W   Balanced translocations and inversions in the genome of Finns. T. Varilo, T. Luukkonen, M. Pöyhönen, L. Peltonen, A. Palotie, K. Aittomäki, J. Ignatius, K. O. J. Simola, J. D. Terwilliger, R. Salonen-Cajander.

407W   A chromosome 21 association study suggests DSCAM as a susceptibility locus for the Hirschsprung disease endophenotype in Down syndrome. A. S. Jannot, A. Pelet, A. Henrion-Caude, M. Masse-Morel, S. Arnold, I. Ceccherini, S. Borrego, R. M. W. Hofstra, A. Munnich, A. Chakravarti, J. Amiel, F. Clerget-Darpoux, S. Lyonnet.

408W   Prediction of complex multifactorial disease: Comparing family history and genetics. C. B. Do, J. M. Macpherson, D. A. Hinds, B. Naughton, U. Francke, N. Eriksson.

409W   Assessment of psoriatic quality of life and quantity of disease by using PDI and PASI. R. K. Golee, R. Singla, R. Kaur.

410W   Assessing pleiotropic influences on comorbid disease phenotypes. R. C. McEachin, A. Karnovsky, J. D. Cavalcoli, M. A. Sartor.

411W   Using protein-protein interactions to long QT syndrome proteins reveals networks underlying genetic association to QT interval variation. E. J. Rossin, A. Lundby, A. B. Steffensen, S. Pulit, P. DeBakker, A. Pfeufer, C. Newton-Cheh, K. Lage, J. Olsen.

412W   optiCall: A robust genotype calling algorithm for rare, low-frequency and common variants. T. Shah, C. A. Anderson.

413W   Assessment of methylation in combination with computational assessments of allelic imbalance in human fibroblasts. J. R. Wagner, B. Ge, S. Busche, T. Pastinen, M. Blanchette.

414W   Evidence of genetic interaction between SNPs in candidate genes that may confer increased risk for oral clefts. M. A. Mansilla, M. E. Cooper, K. Christensen, R. G. Munger, T. H. Beaty, M. L. Marazita, J. C. Murray.

415W   Genome-wide copy number analysis uncovers a new HSCR gene: NRG3. M. Garcia-Barcelo, C. S. M. Tand, M. T. So, C. R. Marshall, S. Scherer, S. Cherny, P. Sham, P. Tam.

416W   Finding structural variants in individual human genomes with Random Forests. J. J. Michaelson, J. Sebat.

417W   Identification of a novel clefting locus through genome-wide CNV analysis. A. L. Petrin, J. M. Dierdorff, B. A. Lentz, X. Hong, G. de la Garza, R. A. Cornell, J. C. Murray, J. R. Manak.

418W   Multi-allelic and complex copy number variations (CNVs) of contiguous genes for Fcγ receptors FCGR2 and FCGR3 and heat-shock protein HSP70 in healthy subjects and systemic lupus erythematosus. Y. L. Wu, B. Zhou, D. J. Birmingham, G. C. Higgins, L. A. Hebert, B. H. Rovin, C. Y. Yu.

419W   Eight novel susceptibility genes associated with type 2 diabetes and glycaemic traits in a gene rich linkage region on chromosome 3q for T2D and metabolic traits — What can be learnt? T. Andrew, W. Lau, K. Direk, H. Elding, N. Maniatis.

420W   Leveraging genome-wide association data to detect genetic pleiotropy at loci associated with glycmic and skeletal phenotypes. L. K. Billings, Y. H. Hsu, R. J. Ackerman, J. Dupuis, B. F. Voight, ARIC Study, ASCOT Study, SUVIMAX Study, Fenland Study, BHS Group, Amish Study, DESIR Study, French Obese, FamHS Study, Swedish Twins, GEMINAKAR, Finnish Twins, D. Karasik, J. B. Meigs, D. P. Kiel, J. C. Florez, DIAGRAM Consortium, GEFOS Consortium, MAGIC Investigators.

421W   Searching for low frequency functional variants in a region linked to type 2 diabetes. S. F. Field, I. Prokopenko, S. Tuna, C. Groves, P. Akin, J. Broxholme, L. J. Baier, C. Bogardus, J. Chan, S. K. Das, P. Froguel, R. Hanson, C. Hu, W. Jia, R. C. Ma, B. Mitchell, N. W. Rayner, A. R. Shuldiner, L. Stein, M. I. McCarthy, P. Deloukas, International Type 2 Diabetes 1q Consortium.

422W   Examination of rare variants in HNF4α in European Americans with type 2 diabetes. J. N. Hellwege, P. J. Hicks, N. D. Palmer, B. I. Freedman, D. W. Bowden.

423W   Using time-to-event analysis for genome-wide association study in a long-term cohort of diabetic retinopathy. S. M. Hosseini, K. Howard, A. P. Boright, L. Sun, A. D. Canty, S. B. Bull, B. E. Klein, R. Klein, A. D. Paterson.

424W   Fine-mapping haplotype analysis of established type 2 diabetes loci using the “Metabochip”. A. Kumar, A. P. Morris, R. Magi, P. Deloukas, P. Donnelly, T. Frayling, A. Hattersley, C. N. A. Palmer, A. D. Morris, M. I. McCarthy.

425W   Relationship between diabetes risk and admixture in post-menopausal African American and Hispanic American women. L. Qi, R. Nassir, R. Kosoy, L. Garcia, J. Curb, L. Tinker, B. Howard, J. Robbins, M. Seldin.

426W   Genetic role on sleep disorder. M. Falah, M. Asghari, M. Houshmand, M. Farhadi.

427W   Sequencing of whole blood cell RNA: Duplex-specific nuclease treatment for removal of abundant RNA species. K. Fitch, S. Luo, P. Beineke, H. Tao, M. Wu, S. Rosenberg, J. Wingrove.

428W   Increased African ancestry and decreased lung function in Puerto Rican and African American children with asthma and mediation by environmental risk factors. K. A. Drake, C. R. Gignoux, L. A. Roth, S. Sen, S. Thyne, P. Avila, L. Borrell, H. J. Farber, R. Kumar, W. Rodriguez-Cintron, J. Rodriguez-Santana, D. Serebrisky, M. Lenoir, K. Meade, E. Brigino-Buenaventura, E. G. Burchard.

429W   Genetic vectors: Consolidated genotyping data, in association study of rheumatoid arthritis. I. Sandalov, L. Padyukov.

430W   Novel approaches for discovery and replication in large scale association studies. D. V. Zaykin, C.-L. Kuo.

431W   Interpreting familial whole-genome sequencing data for the identification of genetic variants influencing epilepsy susceptibility. E. K. Ruzzo, E. L. Heinzen, R. Wedel, K. V. Shianna, D. Ge, R. Ottman, D. B. Goldstein.

432W   Chronic rhinosinusitis in cystic fibrosis heterozygotes. A. Powers, W. Regelmann, J. Phillips, C. Milla, X. Wang.

433W   A Note on robust TDT-type test under informative parental missingness. J. Chen, K. Cheng.

Evolutionary and Population Genetics


434W   Bioinformatic analysis of protein turnover of intronless gene products. T. O. Onabanjo, R. J. Slater, E. A. Bryson, N. C. Madu, R. te Boekhorst.

435W   The influence of real-life topologies on Boolean models of gene regulatory networks. C. Darabos, F. DiCunto, M. Tomassini, P. Provero, M. Giacobini, J. H. Moore.

436W   Compensatory amino acid changes as a signal of human disease. D. Jordan, I. Adzhubey, S. Sunyaev.

437W   Impact of genetic variants on coding genes: genomic sequence and protein structure conservation. E. Khurana, L. Habegger, A. Abyzov, M. Gerstein.

438W   Genetic structure of Jewish populations on the basis of genome-wide single nucleotide polymorphisms. N. M. Kopelman, L. Stone, D. G. Hernandez, D. Gefel, A. B. Singleton, E. Heyer, M. W. Feldman, J. Hillel, N. A. Rosenberg.

439W   Estimating a date of mixture of ancestral South Asian populations. P. Moorjani, N. Patterson, P. Govindaraj, L. Singh, K. Thangaraj, D. Reich.

440W   The influence of whole genome duplication and subsequent diversification on environmental robustness and evolutionary innovation in gene regulatory networks. Q. Pan, C. Darabos, A. Tyler, J. Payne, J. H. Moore.

441W   The effect of assortative mixing on the robustness of gene regulatory networks. D. Pechenick, J. Payne, J. H. Moore.

442W   Bioinformatics tools for population genetics and genetic epidemiology: automatic data format conversion for population genetics and genetic epidemiology through a dynamic pipeline. M. R. Rodrigues, W. Magalhaes, M. Machado, E. Tarazona-Santos.

443W   Genome of the Netherlands: Family-based whole genome sequencing of 250 Dutch trio families. C. Wijmenga, M. Swertz, H. Cao, L. Francioli, F. van Dijk, K. Ye, R. Chen, L. Karssen, J. Laros, B. van Schaik, J. Bovenberg, P. E. Slagboom, D. I. Boomsma, C. M. van Duijn, G. J. van Ommen, Y. Du, P. I. W. de Bakker on behalf of GoNL Consortium.

444W   Automated determination of phased genotypes from family HLA typing data. N. Leahy, A. Madbouly, L. Gragert, C. Malmberg, J. Paulson, M. Maiers.

445W   A Web application for calculating allelic killer immunoglobulin-like receptor haplotype frequencies and linkage disequilibrium statistics. D. Roe, C. Vierra-Green, M. Maiers.

446W   Haplotype diversity and linkage disequilibrium of the dyslexia candidate gene DCDC2 in 90 populations: Patterns for alphabetic and logographic languages. B. M. P. Bowen, S. Kosmaczewski, N. Powers, P. Paschou, W. C. Speed, J. R. Gruen, K. K. Kidd.

447W   PLIN4 variant associated with muscle strength in young females. F. Orkunoglu-Suer, H. Gordish-Dressman, P. Clarkson, P. Thompson, T. Angelopoulos, P. Gordon, N. Moyna, K. Panchapakesan, M. Abdel-Ghani, L. Pescatello, P. Visich, R. Zoeller, E. Hoffman, J. Devaney.

448W   Role of haplotypes on chromosome 6p in the susceptibility to psoriatic arthritis. F. J. Pellett, F. Siannis, V. T. Farewell, P. Rahman, V. Chandran, D. D. Gladman.

449W   Association analysis of the 5-HTTLPR polymorphism of the serotonin transporter gene with type 2 diabetes mellitus and increased body mass index. V. Peralta Leal, E. Leal Ugarte, J. P. Meza Espinoza, I. P. Davalos Rodriguez, A. Bocanegra Alonso, R. I. Acosta Gonzalez, E. Gonzales, S. Nair, J. Duran Gonzalez.

450W   Genetic variant of autophagy related 5 homolog (ATG5) is associated with asthma in the French Canadian founder population. A. H. Poon, S. M. Tse, A. A. Litonjua, S. T. Weiss, Q. Hamid, C. Laprise.

451W   Tumor necrosis factor-alpha and IL4 genes polymorphism is not associated with smoking-related COPD in Northern India population. R. K. Shukla, S. Kant, S. Bhattacharya, B. Mittal.

452W   A unified model of meiosis combining recombination, nondisjunction, interference and fertility. H. R. Johnston IV, D. J. Cutler.

453W   New deletions missed by current PCR techniques could lead to errors in UGT2B17 genotyping for doping tests in sports and association studies. L. Wang, G. Bademci, A. L. Torres, C. Jauregui, S. Zuchner, W. K. Scott, G. W. Beecham, E. R. Martin, J. M. Vance.

454W   Signatures of selection in human transcription factor binding sites and prediction of functional consequences of noncoding mutations. A. Siepel, L. Arbiza, B. A. Aksoy, M. J. Hubisz, B. Gulko, I. Gronau, A. Keinan.

455W   Locally linear embedding for human population structure studies. H. Siu, L. Jin, M. Xiong.

456W   Integrative SNP genotyping for parallel sequencing in population genomics studies. Y. Wang, J. Yu, A. Sabo, R. Gibbs, O. Thousand Genomes Consortium, F. Yu.

457W   Amylase gene copy numbers and salivary amylase activity in ethnically diverse populations from Ethiopia. C. C. Elbers, S. R. Thompson, A. Ranciaro, D. W. Meskel, G. Belay, S. A. Tishkoff.

458W   Characterizing genes associated with both complex and Mendelian diseases. W. Jin, S. Xu, P. Qin, L. Jin.

459W   A map of copy number variations in Chinese populations. H. Lou, S. Li, Y. Yang, X. Zhang, B. Wu, L. Jin, S. Xu.

460W   Human amylase gene copy number variation in Korea and Mongolia population. H. Y. Son, C. H. Park, J. S. Seo, J. I. Kim.

461W   The population genetics of native Peruvian populations: Evolutionary inferences and biomedical implications. E. Tarazona-Santos, L. Pereira, M. Scliar, G. B. Soares-Souza, R. Zamudio, L. W. Zuccherato, F. Kehdy, W. Magalhaes, M. R. Rodrigues, G. Bertorelle, E. Hollox, S. J. Chanock, R. H. Gilman.

462W   Development of Human Variation Database in Japanese Integrated Database Project. A. Koike, N. Nishida, M. Kawashima, M. Yoshida, I. Inoue, S. Tsuji, K. Tokunaga.

463W   Establishing the contribution of candidate genes to the development of ESKD in Puerto Rico. Y. M. Afanador, A. V. Washington, J. C. Martínez-Cruzado, T. K. Oleksyk.

464W   A genome wide search for type 2 diabetes susceptibility genes in Arab families. H. Alsafar, H. Cordell, O. Jafer, S. Jamieson, K. Khazanehdari, J. Blackwell, G. Tay.

465W   Influence of ethnicity in association with UCP2 -866G/A, PGC1α (Gly 482 Ser) and mtDNA 10398G/A polymorphisms in Orissa population groups. A. Behura, R. N. K. Bamezai, G. B. N. Chainy.

466W   Exceptions to the "One Drop Rule"? DNA evidence of African ancestry in European Americans. J. L. Mountain, J. M. Macpherson, C. B. Do, B. T. Naughton, R. A. Kittles, N. Eriksson.

467W   African genome sequencing reveals diversity and origin of the “European” 17q21.31 inversion polymorphism. K. Meltz Steinberg, F. Antonacci, J. M. Kidd, C. D. Campbell, P. Sudmant, L. Vives, M. Malig, L. Scheinfeldt, W. Beggs, M. P. Donnelly, K. K. Kidd, S. A. Tishkoff, E. E. Eichler.

468W   Positive and balancing selection acting on the lectin-like oxidized low density lipoprotein receptor 1 (OLR1) intronic regions. I. M. Predazzi, A. Rokas, N. Schnetz-Boutaud, N. D. Williams, A. Tacconelli, A. Deinard, J. L. Haines, G. Novelli, G. Sirugo, S. M. Williams.

469W   A likelihood framework to model gene expression evolution through a phylogeny. R. V. Rohlfs, P. Harrigan, D. Brawand, M. Soumillon, A. Necsulea, H. Kaessmann, R. Nielsen.

470W   Evidence for extensive ancient admixture in different human populations. J. Wall, S. Kim, C. Gignoux, A. Woerner, F. L. Mendez, K. Veeramah, M. F. Hammer.

471W   Positive selection, purifying selection, and neo-functionalization in human disease-related zinc-finger proteins. G. J. Wyckoff, J. H. Laity, L. S. Feng, A. Solidar.

472W   A population genetics analysis of MetaboChip data comparing African-American and European-descent populations. W. S. Bush, K. E. North, S. Buyske, B. Voight, D. C. Crawford, PAGE Study.

473W   A comparative study of genetic and epigenetic regulatory mechanisms in primates. C. E. Cain, A. A. Pai, R. Pique-Regi, J. F. Degner, M. Myrthil, N. Lewellen, J. K. Pritchard, Y. Gilad.

474W   RANTES gene polymorphism in HIV-infected South African population. N. Chin'ombe, M. Skelton, C. Dandara.

475W   Analysis of the genetic basis of disease in the context of human migration. E. C. Corona, R. C. Chen, C. P. Patel, A. M. Morgan, M. S. Sikora, C. B. Bustamante, A. B. Butte.

476W   Conserved SNPs are enriched for disease-susceptability loci and eQTLs in LCLs. P. Evans, E. Gamazon, N. Cox.

477W   Genetic of LCT gene in Amerindian populations from Brazil. D. C. Friedrich, S. M. Callegari-Jacques, F. M. Salzano, M. L. Petzl-Erler, L. T. Tsuneto, M. H. Hutz.

478W   Human genes with unusually recent or ancient common ancestors. M. Hu, Y. Xue, C. Tyler-Smith.

479W   Population history and paternal gene flow in the Ch’orti’ Maya of Eastern Guatemala. A. E. Justice, S. M. Johnson, M. H. Crawford.

480W   Genetic affinities of Lakshadweep Islanders. S. Justin Carlus, K. Gopal, A. Mishra, P. S. Gireesha, A. Rastogi, A. J. Francis, R. Tamang, A. G. Reddy, L. Singh, K. Thangaraj.

481W   Inferences of demographic history and selection in Bornean and Sumatran orangutan genomes. J. L. Kelley, X. Ma, K. E. Eilertson, R. N. Gutenkunst, C. D. Bustamante.

482W   Comparing genetic diversity and evolutionary implication of 439 obesity-related genes between populations in the Human Genome Diversity Panel. J. Kim, M. Lee, Y. Yoo, J. Sung.

483W   Ascertainment bias in microsatellites: Impact on estimates of mutation rates. M. Kimmel, B. Li.

484W   Lactase persistence: New variants and evidence for function. A. Liebert, T. Danielsen, A. Krüger Olsen, J. T. Troelsen, D. M. Swallow.

485W   Studying the impact of Old World diseases on Native American populations via ancient DNA. B. Llamas, L. Quintana-Murci, A. L. Hughes, A. Cooper, W. Haak.

486W   Phylogenetics and phase: Comprehensive mapping of human genetic variation associated with the age of onset of late-onset Alzheimer’s disease. M. W. Lutz, D. G. Crenshaw, A. M. Saunders, I. Grossman, O. Chiba-Falek, D. K. Burns, A. D. Roses.

487W   From essentiality to redundancy: Evolutionary genetics dissection of the human interferon families. J. Manry, E. Patin, G. Laval, S. Fornarino, L. B. Barreiro, M. Tichit, M. Fumagalli, M. Sironi, Y. Itan, J. L. Casanova, C. Bouchier, L. Quintana-Murci.

488W   Transmission distortion observed in human pedigrees. W. K. Meyer, C. Ober, R. R. Hudson, M. Przeworski.

489W   Impact of restricted marital practices on genetic variation in a distinctive endogamous population. T. J. Pemberton, F.-Y. Li, E. K. Hanson, N. U. Mehta, G. Mendoza-Fandino, J. Ballantyne, J. W. Belmont, N. A. Rosenberg, C. Tyler-Smith, P. I. Patel.

490W   Patterns of shared polymorphism between humans and chimpanzees. S. Pfeifer, E. Leffler, A. Fledel-Alon, A. Auton, R. Bowden, O. Venn, S. Melton, Z. Iqbal, I. Turner, L. Segurel, R. Hernandez, J. Maller, J. Broxholme, R. Bontrop, G. Lunter, P. Humburg, S. Myers, P. Donnelly, M. Przeworski, G. McVean.

491W   Evolutionary dynamics of co-segregating gene clusters associated with complex diseases. C. Preuss, M. Stoll.

492W   Rate and molecular spectrum of spontaneous mutations in the human genome inferred from rare variants found by sequencing 202 drug target genes in 14,000 individuals. V. M. Schaibley, M. Zawistowski, D. Wegmann, D. Kessner, M. G. Ehm, J. C. Whittaker, S. L. Chissoe, V. E. Mooser, M. R. Nelson, G. Abecasis, J. Novembre, S. Zöllner, J. Z. Li.

493W Unprogrammed presentation number

494W   Evolutionary genetics evidence for strong differences in the biological relevance of host microbial sensors. E. Vasseur, S. Pajon, J. Manry, B. Crouau-Roy, L. Quintana-Murci.

495W   A SNP in EDAR is associated with a number of phenotypes of epidermal appendages: A population study in China. S. Wang, Y. G. Kamberov, J. Tan, P. Gerbault, L. Tan, Y. Yang, S. Li, B. A. Morgan, D. E. Lieberman, M. G. Thomas, C. J. Tabin, L. Jin, P. C. Sabeti.

Psychiatric Genetics, Neurogenetics and Neurodegeneration


496W   Parental age and assisted reproductive technology in autism spectrum disorders, attention deficit hyperactivity disorder, and Tourette syndrome in a Japanese population. T. Shimada, H. Kuwabara, Y. Kano, K. Kasai, N. Kato, T. Sasaki.

497W   Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in a Sicilian pedigree. F. Cavalcanti, P. Tarantino, M. Sframeli, F. Annesi, E. V. De Marco, M. Caracciolo, M. Gagliardi, A. Gambardella, C. Rodolico, A. Quattrone, G. Annesi.

498W   GRIK2, IL1B, NEDD8 and NEDD9 genes may act as modifiers of the Machado-Joseph disease/ SCA 3 phenotype. V. E. Emmel, K. C. Donis, T. C. Gheno, J. A. M. Saute, L. Vedolin, L. B. Jardim, M. L. Sraiva-Pereira.

499W   Residual age of disease onset variance in spinocerebllar ataxias in a Cuba and U.S. cohort. K. P. Figueroa, H. Coon, C. M. Gomez, H. L. Paulson, S. L. Perlman, N. Santos, J. D. Schmahmann, L. Velázquez Pérez, G. R. Wilmot, T. A. Zesiewicz, S. H. Subramony, T. Ashizawa, S. M. Pulst, Clinical Research Consortium for Spinocerebellar Ataxias.

500W   A new case of ataxia type 17 in a Mexican female. D. Garcia-Cruz, C. M. Moran-Moguel, J. Sanchez-Corona, G. Castańeda-Cisneros, N. O. Davalos-Rodriguez, I. P. Davalos-Rodriguez, J. A. Alcaraz-Ochoa, D. M. Sanchez-Garcia, M. H. Orozco-Gutierrez, N. Y. Nuńez-Reveles, J. Corral, H. San Nicolas, L. de Jorge, V. Volpini.

501W   Screening ANO10 mutations in a Japanese cohort of cerebellar ataxia. K. Ishikawa, M. Furuki, H. Matsuo, T. Yamashita, H. Mizusawa.

502W   A genome-wide expression profiling to unravel effect of missense mutations in SCA28 patients. C. Mancini, P. Roncaglia, N. Lo Buono, A. Brussino, C. Cagnoli, F. Maltecca, H. Krmac, T. Limongi, G. Stevanin, S. Forlani, G. Casari, A. Funaro, A. Durr, N. Migone, S. Gustincich, A. Brusco.

503W   Generation and characterization of transgenic rat models of spinocerebellar ataxia type 17. H. Nguyen, A. Kelp, O. Riess, P. Bauer.

504W   A novel mouse model of spinocerebellar ataxia type 6 develops distinct Purkinje cell degeneration. T. Unno, H. Mizusawa, K. Watase.

505W   Genotype-phenotype correlations in spastic paraplegia type 7. K. L. I. van Gassen, C. van der Heijden, E. J. Kamsteeg, H. Scheffer, B. P. van de Warrenburg.

506W   A novel ataxin-7 variant associated with slurred speech, clumsiness, learning difficulties, pes cavus and ataxia. J. Warner, J. Pagan, D. FitzPatrick, M. Porteous, A. Diamond, P. Kennedy, D. Wilcox.

507W   Non-AUG initiated homopolymeric proteins in microsatellite expansion disorders. T. Zu, N. Doty, B. Gibbens, M. Swanson, L. Ranum.

508W   A SNAP25 promoter variant is associated with schizophrenia and a disturbed SNAP25b/SNAP25a expression ratio in patients. A. Dumaine, A. Meary, P. M. Llorca, C. Lancon, F. Schurhoff, A. Szoke, M. Leboyer, S. Jamain.

509W   Evaluating the NLGN3 gene alternative splicing pattern and its potential role in autism. Z. Talebizadeh, R. Aldenderfer.

510W   GJB2 (Connexin26) is associated with age-related hearing impairment in humans and mice. C.-C. Wu, J.-H. Hwang, Y.-C. Lu, Y.-H. Lin, P.-J. Chen, W.-S. Yang, M.-F. Chen, I.-S. Yu, S.-W. Lin, H.-C. Lin, C.-C. Kuo, Q. Chang, X. Lin, Y.-L. Lee, T.-C. Liu, C.-J. Hsu.

511W   Microarray technology and GhostMiner software in modeling genetic risk factors of neurometabolic disturbance in patients with Parkinson’s disease. M. Bodzioch, K. Lapicka-Bodzioch, J. Slawek, A. Roszmann, M. Rudzinska, A. Szczudlik, A. Slowik.

512W   Pathway analysis approach for interpreting nicotine dependence GWAS. O. Harari, J. C. Wang, L. J. Bierut, P. A. F. Madden, A. M. Goate, NAG and SAGE Collaborators.

513W   Transplantation of p75 downregulated rat bone marrow stromal cells promotes functional behavior in a rat model of spinal cord injury. Z. Hajebrahimi, H. Edalat, M. Tavallaei, M. Movahedin, S. Amiri, S. J. Mowla.

514W   Genetic factors associated with the predisposition to late onset Alzheimer disase. A. Alpman Durmaz, E. Kumral, B. Durmaz, H. Onay, F. Ozkinay, O. Cogulu, S. Pehlivan, M. Orman, C. Ozkinay.

515W   Genome-wide association analysis of age-at-onset in Alzheimer’s disease. M. M. Barmada, F. Y. Demirci, R. L. Minster, M. M. Carrasquillo, V. S. Pankratz, S. G. Younkin, A. J. Saykin, R. A. Sweet, E. Feingold, S. T. DeKosky, O. L. Lopez, M. I. Kamboh.

516W   Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients. A. Brussino, E. Di Gregorio, E. Giorgio, D. Lacerenza, F. Talarico, G. Vaula, P. Mandich, C. Toro, E. E. Pierre, P. Labauge, S. Capellari, P. Cortelli, F. P. Vairo, W. Gahl, O. Boespflug-Tanguy, A. Brusco.

517W   Quantification of the LINE-1 copy number in postmortem brains of psychiatric disorder patients. M. Bundo, T. Miyauchi, A. Komori-Kokubo, K. Kasai, T. Kato, K. Iwamoto.

518W   A novel putatively autism-associated adenosine A3 receptor variant causes dysregulation of and altered physical association with the serotonin transporter. N. Campbell, C.-B. Zhu, K. Lindler, R. D. Blakely, J. S. Sutcliffe.

519W   The use of aripiprazole in the management of schizophrenia associated with 22q11.2 deletion syndrome. E. Chow, A. S. Bassett.

520W   Identification of bipolar disorder genes by exome sequencing. C. Cruceanu, R. G. Lafreničre, D. Spiegelman, P. Grof, M. Alda, G. A. Rouleau, G. Turecki.

521W   Genome-wide search for pleiotropic genetics effects on obesity and brain structure in Mexican American individuals. J. E. Curran, A. M. Winkler, R. L. Olvera, M. A. Carless, T. D. Dyer, J. W. Kent Jr., P. Kochunov, M. C. Mahaney, A. G. Comuzzie, P. T. Fox, L. Almasy, R. Duggirala, D. C. Glahn, J. Blangero.

522W   Network analysis reveals functional convergence between genes involved in Alzheimer’s disease and molecular targets of lithium. S. D. Detera-Wadleigh, F. J. McMahon.

523W   Imprinted small nucleolar RNA in autism spectrum disorders. A. Eran, K. Vatalaro, E. N. Brown, I. S. Kohane, L. M. Kunkel.

524W   Active and passive MDMA (‘ecstasy’) intake induces differential transcriptional changes in the mouse brain. N. Fernández-Castillo, M. J. Orejarena, M. Ribasés, M. Casas, P. Robledo, R. Maldonado, B. Cormand.

525W   Expression analysis in dental pulp stem cells of idiopathic autistic patients reveals alterations in important processes for neurogenesis. K. Griesi-Oliveira, D. Y. Sunaga, L. A. Cruz, E. Vadasz, M. R. Passos-Bueno.

526W   Association of SNPs in the FKBP5 gene region with hippocampal and amygdala volume in a healthy control sample. L. Gschwind, C. Vogler, D. de Quervain, A. Papassotiropoulos.

527W   A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 maps to chromosome 10p13-14. M. Gu, W. Xu, L. Sun, W. Guo, J. Ma, S. Chen, Z. Wang.

528W   Variants in the 15q25 locus are associated with schizophrenia diagnosis. K. J. Jackson, A. H. Fanous, J. Chen, K. S. Kendler, X. Chen.

529W   Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder. T. Lencz, S. Guha, C. Liu, J. Rosenfeld, P. DeRosse, L. Cheng, J. Badner, J. Kane, A. Lee, P. Gregersen, I. Pe'er, A. Malhotra, A. Darvasi.

530W   Analysis of the FBXO7 gene in early-onset parkinsonism. Y. Li, M. Funayama, H. Yoshino, H. Tomiyama, N. Hattori.

531W   Mesial temporal lobe epilepsy gene expression profiling: A comprehensive gene set enriched-based analysis. I. Lopes-Cendes, J. F. Vasconcellos, C. V. Maurer-Morelli, C. S. Rocha, C. L. Yasuda, H. Tedeschi, E. D. Oliveira, F. Cendes.

532W   A frequentist enrichment approach links bipolar affective disorder to genes involved in long-term potentiation phenotypes. S. Meader, L. Winchester, E. Domenici, C. Francks, J. Ragoussis, C. Webber.

533W   CACNA1C is associated with memory function in healthy young adults. A. Milnik, B. Auschra, D. J.-F. de Quervain, A. Papassotiropoulos.

534W   Intragenic CNVs identified by exon-level microarray analysis in individuals with autism plus epilepsy. A. Moreno-De-Luca, E. B. Kaminsky, D. H. Ledbetter, C. L. Martin.

535W   Characterization of VCP R155H homozygote mouse model exhibits pathology typical of IBMPFD and ALS. A. Nalbandian, E. Dec, S. Donkervoort, H. Yin, G. D. Watts, C. Smith, V. Caiozzo, A. Wang, T. Mozaffar, J. Weiss, V. Kimonis.

536W   Haplogroup U indicates proneness to autism but on the contrary, haplogroup H is likely to be the least affected mtDNA variant. F. Piryaei, M. Houshmand, O. Aryani, S. Dadgar, Z. S. Soheili.

537W   Characterization of interacting partners of WNK1/HSN2 in hereditary neuropathy sensory and autonomous type II (HSAN2). S. Ramalingam, J.-B. Rivičre, V. Lavastre, M. Shekarabi, S. Holbert, J. Lafontaine, M. Srour, N. Merner, D. Rochefort, P. Hince, R. Gaudet, A.-M. Mes-Masson, J. Baets, H. Houlden, B. Brais, G. Nicholson, H. Van Esch, S. Nafissi, P. De Jonghe, M. M. Reilly, V. Timmerman, P. A. Dion, G. A. Rouleau.

538W   Penalized regression to detect multiple genetic associations with motor symptom progression in Parkinson’s disease. S. L. Rhodes, M. Creek, J. Sinsheimer, B. Ritz.

539W   Increased sociability and social interaction in mice lacking glutamate receptor interacting proteins. R. Rose, R. Mejias, A. Adamczyk, R. Huganir, T. Wang.

540W   Deletion of MAOA and MAOB in male siblings with severe mental retardation and autistic phenotype. M. Saito, T. Yamagata, Y. Shiba, N. Nakashima, M. Nagashima, E. Jimbo, M. Y. Momoi.

541W   Genome-wide linkage analysis suggests oligogenic regulation of brain auditory responses. E. Salmela, H. Renvall, M. Vihla, J. Kere, R. Salmelin.

542W   Copy number variants and agenesis of the corpus callosum: A significant etiologic mechanism that overlaps with autism. E. Sherr, S. Sajan, L. Fernandez, E. Rider, S. Esmaeeli, J. Glessner, H. Hakonarson, S. Christian, W. Dobyns.

543W   A genetic study associating brain volume abnormalities with serotonin system gene variants in pediatric obsessive-compulsive disorder. V. M. Sinopoli, K. Wu, F. MacMaster, P. Easter, J. Kennedy, G. Hanna, D. Rosenberg, P. Arnold.

544W   Multi-variant analysis of “dopamine pathway” genes in skiers and snowboarders reveals no association with sensation seeking behaviours. C. J. Thomson, S. R. Carlson, J. R. Rupert.

545W   Comparative analysis of dopamine D4 receptor rare variants in schizophrenia and attention deficit and hyperactivity disorder (ADHD): Further evidence of allelic heterogeneity contribution to ADHD etiology. L. Tovo-Rodrigues, L. A. Rohde, T. Roman, A. Salatino-Oliveira, J. P. Genro, F. B. Kohlrausch, C. Kieling, C. Zeni, G. V. Polanczyk, M. Schmitz, E. S. Gama, M. I. Lobato, M. H. Hutz.

546W   Mutation screening of microtubule genes in sporadic and familial patients with bilateral perisylvian polymicrogyria. S. S. Tsuneda, F. R. Torres, M. M. Guerreiro, C. A. Guimarăes, V. C. Terra-Bustamante, M. A. Montenegro, F. Cendes, I. Lopes-Cendes.

547W   Rare deletions at the NRXN3 locus in individuals with autism spectrum disorder. A. K. Vaags, A. C. Lionel, D. Sato, J. L. Howe, C. R. Marshall, S. Lamoureux, I. E. Drmic, L. Senman, C. Chrysler, A. Thompson, C. Russell, D. Pinto, A. Prasad, S. Walker, W. Roberts, P. Szatmari, S. W. Scherer.

548W   Expression-based in silico screening of candidate therapeutic compounds for mesial temporal lobe epilepsy. J. F. Vasconcellos, C. V. Maurer-Morelli, C. S. Rocha, C. L. Yasuda, H. Tedeschi, E. D. Oliveira, F. Cendes, I. Lopes-Cendes.

549W   White matter lesion on brain MRI can be diagnostic for ATR-X syndrome: The study of brain MRI/CT findings in ATR-X syndrome patients in Japan. T. Wada, H. Ban, K. Enomoto, K. Kurosawa, N. Aida, ATR-X Syndrome Network Japan.

550W   Association of candidate genes conferring susceptibility to schizophrenia in a sample from Indonesia with 1097 cases and 1112 controls reveals association with rs1344706 located in the ZNF804A gene. D. Wildenauer, N. Dai, W. Qin, M. Wildenauer, A. Kusumawardhani, S. Schwab, Indonesia Schizophrenia Genetic Consortium.

551W   Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. T. Yamamoto, K. Shimojima, M. Sugawara, M. Shichiji, S. Mukaida, R. Takamaya, K. Imai.

552W   Variants in NRG3 at 10q23.1 correlated with a subtype of schizophrenia with severe delusions. M. Zeledón, M. Taub, N. Eckart, R. Wang, M. Szymanski, P. Chen, A. Pulver, D. Avramopoulos, A. Sawa, D. Valle.

553W   GWAS scoring routines and serial, permutated enrichment analyses reveal a substantial polygenic component to the risk of alcohol dependence, with biological ontologies implicated in both European-American and African-American subjects. M. Zlojutro, D. M. Dick, A. Agrawal, K. K. Bucholz, M. Schuckit, S. Kuperman, J. Kramer, J. A. Tischfield, J. I. Nurnberger, Jr., V. Hesselbrock, B. Porjesz, L. Bierut, H. J. Edenberg, L. Almasy.

554W   RAAS pathway genes in susceptibility to intracranial aneurysm in Indian population. M. Banerjee, L. V. Koshy, S. Sathyan, H. V. Easwer, S. Premkumar, J. P. Alapatt, R. N. Bhattacharya.

555W   Common genetic susceptibility to autism spectrum disorder and dyslexia. M. L. Cuccaro, D. Ma, E. R. Martin, J. L. Haines, J. R. Gilbert, M. A. Pericak-Vance.

556W   Direct genetic effects of putative functional SNPs in CRH pathway genes associated with anxious temperament in rhesus macaques. G. L. Fawcett, M. Raveendran, J. A. Oler, A. S. Fox, S. E. Shelton, D. M. Muzny, R. A. Gibbs, N. H. Kalin, J. Rogers.

557W   Association study of five genes and early-onset generalized anxiety disorder. Y. Feng, K. Manassis, D. Avery, C. L. Barr.

558W   Increased exonic de novo mutation rate in probands affected with schizophrenia. S. L. Girard, J. Gauthier, A. Noreau, L. Xiong, S. Zhou, L. Jouan, A. Dionne-Laporte, D. Spiegelman, E. Henrion, O. Diallo, J. Y. J. Bao, A. H. Y. Tong, C. H. Lin, B. Millet, N. Jaafari, R. Joober, P. Dion, S. Lok, M.-O. Krebs, G. A. Rouleau.

559W   Evaluation of candidate genes for autism using Vineland Adaptive Behavior Scales-II as covariates in APL-OSA. J. Jaworski, I. Konidari, P. Whitehead, E. Martin, M. Cuccaro, J. Gilbert, J. Hussman, M. Pericak-Vance, J. Haines, R. Chung.

560W   Evidence of imprinting at the autosomal recessive intellectual disability gene, TRAPPC9, and a possible role for CNVs at this locus in autism. L. Kaufman, M. Ishida, K. Nakabayashi, A. Mir, G. Moore, J. Mill, S. Lewis, B. Fernandez, M. Ayub, J. Vincent.

561W   Response to antidepressants is associated with polymorphisms in the leptin gene and reduced leptin availability. S. Kloiber, S. Ripke, B. Puetz, J. Hennings, P. Weber, M. Ising, M. Uhr, E. B. Binder, B. Muller-Myhsok, F. Holsboer, S. Lucae.

562W   Targeted sequencing of ALDH2 and ADH cluster loci shows differences in distribution of rare SNPs in European American alcohol-dependent subjects and controls. J. B. Listman, H. Zhao, X. Chen, H. R. Kranzler, J. Gelernter.

563W   Single nucleotide polymorphism fine mapping of the AVRP1a and OXTR region in families with autism: Associations in the OXTR/CAV3 locus. A. Lori, I. Lee, J. F. Cubells, T. Lehtimäki, K. Puura, D. Skuse, L. J. Young, E. B. Binder.

564W   The SNP and haplotype analysis of CD200 gene with schizophrenia in a Japanese population. F. Nishimura, A. Yoshikawa, M. Tochigi, Y. Kawamura, T. Umekage, T. Sasaki, K. Kasai, C. Kakiuchi.

565W   Survey of effects of the DRD4 7R allele on substance use disorder across schizophrenia, bipolar and other psychiatric phenotypes. V. F. G. Oliveira, A. K. Tiwari, C. C. Zai, M. Tampakeras, O. Likodi, B. Mackenzie, J. L. Kennedy.

566W   ApoE-SNCA-LRRK2 genes interaction in Parkinson’s disease and controls. A. Parsian, J. H. Zhao.

567W   A polymorphism on CHRNA3 gene is associated with tobacco smoking in patients with ADHD in a Brazilian sample. E. R. Polina, K. L. Silva, C. A. I. Salgado, E. H. Grevet, P. Belmonte-de-Abreu, C. H. D. Bau.

568W   Homozygosity mapping in 7 Pakistani intellectual disability families identifies 3 new autosomal recessive loci. M. A. Rafiq, A. Mir, A. Noor, K. Mittal, E. Wiame, L. Kaufman, A. Mikhailov, F. Naeem, E. Van Schaftingen, T. Nasir, M. Ansar, M. Ayub, J. B. Vincent.

569W   Association study shows positive correlation between inflammatory IL1B gene and mesial temporal lobe epilepsy with hippocampal sclerosis. R. Santos, M. Silva, R. Secolin, C. Yasuda, T. Velasco, A. Sakamoto, F. Cendes, I. Lopes-Cendes, C. Maurer-Morelli.

570W   Exploring the contribution of ATP1A2 and SCN1A to genetic susceptibility in non-hemiplegic migraine. M. J. Sobrido, M. Camińa-Tato, A. Sampayo, J. Pardo, R. Cruz, A. Carracedo, P. Cacheiro.

571W   CNS pathology in the mouse model of sialidosis recapitulates features of early stage Alzheimer's disease. I. Annunziata, A. Patterson, D. Helton, S. Keilani, S. Gandy, A. d'Azzo.

572W   SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache. P. Frosk, A. Mhanni, M. Rafay.

573W   Molecular pathogenesis for paroxysmal involuntary movements as a channelopathy: Genetic analysis of human cases and an animal model. C. Okada, H. Matsuo, S. E. Sander, M. Hamann, A. Richter, T. Hamada, A. Nakayama, Y. Utsumi, Y. Kawamura, H. Onoue, K. Kaida, Y. Kobayashi, K. Kamakura, N. Shinomiya.

574W   22q11.2 Deletion in a Brazilian schizophrenia patient revealed by MLPA and FISH techniques. M. I. Melaragno, F. T. Bellucco, V. K. Ota, S. I. Belangero, M. C. Cernach, A. Gadelha, J. Mari, R. A. Bressan, M. C. Smith, D. M. Christofolini.

575W   Heritability analysis of behavioral traits in children of alcoholics. V. Strumba, K. Shedden, R. A. Zucker, M. Burmeister.

576W   Construction of in vitro model system to understand molecular mechanism of CGG repeat expansion in Fragile X syndrome. Y. Nakayama, T. Seko, N. Sunamura, Y. Ogino, M. Kato, E. Nanba, M. Oshimura, H. Kugoh.

577W   Autism spectrum disorders associated with 17q12 deletions implicate the acetyl-CoA carboxylase alpha gene. D. Moreno-De-Luca, B. D. Pearce, O. Y. Ousley, C. L. Martin, D. H. Ledbetter, Simons Simplex Collection Genetics Consortium.

578W   Defining the use of electronic medical records in genetic studies of multiple sclerosis. M. F. Davis, J. L. McCauley, J. R. Oksenberg, S. L. Hauser, M. A. Pericak-Vance, J. L. Haines.

579W   Detection of a deletion in 20p in a schizophrenia patients. C. Zai, M. Tampankeras, V. de Luca, A. Tiwari, V. de Oliveira, N. Freeman, B. MacKenzie, J. Kennedy.

580W   MLPA in proband and carrier analysis of spinal muscular atrophy. C. Arthi, B. R. Lakshmi.

581W   Copy number loss in Ashkenazi Parkinson's disease patients, non-carriers of founder LRRK2 or GBA mutations. A. Bar-Shira, M. Kedmi, I. Pe'er, N. Giladi, A. Orr-Urtreger.

582W   Novel genomic imbalances detected by aCGH in patients with intellectual disability: Searching for the key cognition genes. M. Barbosa, F. Lopes, C. Bessa, G. Soares, J. Silva, T. Temudo, M. Rocha, C. Gomes, G. Barros, F. Duque, G. Oliveira, C. Marques, M. Reis-Lima, A. M. Fortuna, J. Pinto-Basto, J. Weiss, E. Sistermans, B. Ylstra, P. Maciel.

583W   Rare copy number variation at SEMA5A eQTLs is associated with autism. Y. Cheng, L. Weiss.

584W   Attention problems and CNVs: A study of MZ twin pairs. E. A. Ehli, A. Abdellaoui, Y. Hu, J. J. Hottenga, M. Kattenberg, C. E. van Beijsterveldt, M. Bartels, R. R. Althoff, X. Xiao, P. Scheet, E. J. de Geus, J. J. Hudziak, D. I. Boomsma, G. E. Davies.

585W   Genome-wide analysis of copy number variations in schizophrenia. N. Feng, G. Todarello, C. Li, B. S. Kolachana, R. Vakkalanka, D. R. Weinberger, R. E. Straub.

586W   Genome-wide copy number variation analysis for schizophrenia in a large Ashkenazi cohort. S. Guha, J. Rosenfeld, A. K. Malhotra, A. Darvasi, T. Lencz.

587W   A FOXP2 intragenic deletion in a patient with autism. F. Gurrieri, N. Cannelli, G. Neri.

588W   Large-scale pathway analysis of copy number variants highlights defective GABAR-A signaling in autism spectrum disorders. D. Hadley, J. Glessner, F. Mentch, D. Abrams, C. Kim, E. Frackelton, C. Hou, R. Chiavacci, J. Connolly, G. Lyon, H. Hakonarson, Autism Genome Project.

589W   Copy number aberrations affecting adhesion genes involved in the development of the cerebellar vermis are associated with autism spectrum disorders. S. Hochreiter, D.-A. Clevert.

590W   High coverage of copy number variants in Finnish patients with autism spectrum disorders using Nimblegen 2.1M array. K. Kantojärvi, R. Vanhala, T. Lepistö, R. Alen, I. Järvelä, L. Muthuswamy.

591W   Familial occurrence of Asperger syndrome associated with a 1Mb duplication on Xq including the MCT8-gene. P. M. Kroisel, K. Wagner, M. Mach, E. Vallant, M. Brunner-Hantsch, M. R. Speicher, K. M. Roetzer.

592W   Genome-wide investigation of rare CNVs in a newly characterized Canadian autism cohort. A. C. Lionel, B. Thiruvahindrapuram, D. Merico, J. L. Howe, Z. Wang, J. Wei, L. Zwaigenbaum, B. A. Fernandez, W. Roberts, P. Szatmari, C. R. Marshall, S. W. Scherer.

593W   A genome-wide CNV association study on autism spectrum disorder in the Japanese population. X. Liu, T. Shimada, K. Tokunaga, T. Sasaki.

594W   Copy number variations reveal novel GABAergic and neural genes potentially involved in autism. D. Q. Ma, A. J. Griswold, H. N. Cukier, J. M. Jaworski, I. Konidari, P. L. Whitehead, S. M. Williams, R. Menon, E. R. Martin, J. L. Haines, M. A. Pericak-Vance.

595W   Chromosome 15q11.2 is associated with schizophrenia risk in a set of patients. D. Rudd, M. Axelsen, S. Mugge, E. Epping, N. Andreasen, T. Wassink.

596W   Analysis of copy number variation in Alzheimer's disease: The NIA-LOAD/NCRAD Family Study. S. Swaminathan, L. Shen, S. Kim, M. Inlow, J. D. West, T. Foroud, K. M. Faber, R. Mayeux, A. J. Saykin, NIA-LOAD/NCRAD Family Study Group.

597W   Rare variants in the 15q13.3 encoded CHRNA7 gene in autism. S. Thomson, J. Sutcliffe.

598W   Whole genome copy number variation study in an Arab-Israeli sample supports the role of rare large de novo deletions. F. Torri, A. Akelai, A. Calabria, D. Amann-Zalcenstein, E. Ben-Asher, K. Kanyas, J. S. Beckmann, B. Lerer, F. Macciardi.

599W   Systematic shRNA-mediated silencing of 100 genes implicated in autism spectrum disorders and schizophrenia in iPSC-derived human neurons. C. Ernst, K. Theriault, S. Sheridan, T. Nieland, D. Root, S. Haggarty, J. Gusella.

600W   Dynamic versus static biomarkers of schizophrenia and bipolar disorder: Considering differential developmental courses in genetic studies. M. Maziade, T. Paccalet, N. Rouleau, A. Sasseville, E. Gilbert, C. Cellard, M. Battaglia, C. Marino, M. A. Roy, C. Mérette, M. Hébert.

601W   Peripheral blood expression profiles act as biomarkers for postpartum depression in a high risk population. D. Mehta, L. Kraus, M. Rex-Haffner, J. Newport, Z. Stowe, E. Binder.

602W   Behaviour and learning in children with NF1: Data from a population-based study. A. Lehtonen, S. Garg, J. Green, D. Trump, G. Evans, S. Huson.

603W   Gene-environment interaction studies in multiple sclerosis: The development of a reliable retrospective survey tool. A. Hadjixenofontos, W. K. Scott, L. F. Barcellos, J. L. Haines, M. A. Pericak-Vance, J. L. McCauley.

604W   Genome-wide linkage and association analysis of job stress. K. Min, J. Min, D. Lee, Y. Song, K. Lee, J. Sung, S. Cho.

605W   Challenges in investigating novel SNPs identified from next-generation sequencing of the 11p13 locus in a rolandic epilepsy family sample. L. Addis, T. Chiang, A. Derkach, J. J. Russo, L. J. Strug, D. K. Pal.

606W   Heterogeneous phenotypes of idiopathic occipital epilepsy, febrile convulsion and hemiplegic migraine occurring in a family with a SCN1A defect. G. Annesi, L. Mumoli, A. Labate, P. Tarantino, G. Palamara, E. Ferlazzo, A. Fratto, U. Aguglia, A. Quattrone, A. Gambardella.

607W   Exploring the genetic complexity of juvenile myoclonic epilepsy. F. Conte, T. Peluzzo, F. Oliveira, L. Betting, D. Holanda, L. Gitaí, F. Gameleira, D. Gitaí, F. Cendes, I. Lopes-Cendes, CInAPCe.

608W   Protocadherin 19 mutations in sporadic and familial cases of epilepsy and mental retardation in females. L. M. Dibbens, R. S. Moller, M. A. Bayly, S. von Spiczak, T. Desai, H. Hjalgrim, G. Wallace, S. McKee, R. C. Dale, I. E. Scheffer.

609W   Genetic study of SCN1A-related epilepsies in Southern Italy. M. Gagliardi, P. Tarantino, E. V. De Marco, A. Labate, G. Tortorella, F. Annesi, M. Caracciolo, F. Cavalcanti, A. Quattrone, A. Gambardella, G. Annesi.

610W   Molecular characterization of a new model of generalized epilepsy with absence seizures. A. H. B. Matos, C. Rocha, J. F. Vasconcellos, V. D. B. Pascoal, M. T. Chamma, S. Botte, C. V. Maurer-Morelli, I. Lopes-Cendes, A. C. Valle.

Statistical Genetics and Genetic Epidemiology


611W   A Bayesian model for splicing QTL mapping with RNA-Seq. E. Pantaleo, M. Stephens.

612W   A comprehensive approach to the study of hearing loss: Identification of new candidate genes and pathways. G. Girotto, M. A. Lewis, N. Pirastu, D. Licastro, D. Vozzi, K. P. Steel, P. Gasparini.

613W   Multifactor Dimensionality Reduction 3.0: Open-source software for systems genetics. P. Andrews, J. H. Moore.

614W   Accelerated skeletal muscle ageing is a molecular signature in OPMD. S. Y. Anvar, P. A. C. 't Hoen, S. M. van der Maarel, V. Raz.

615W   A comparison of cataloged variation between International Haplotype Map Consortium and 1000 Genomes Project. C. Buchanan, E. Torstenson, W. Bush, M. Ritchie.

616W   Comparison of different methods for detecting gene-gene interactions in case-control data. T. Cattaert, J. A. Rial Garcia, E. Gusareva, K. Van Steen.

617W   The OBiBa project: An international collaboration for open source software for biobanks. V. Ferretti, P. Laflamme, P. White, P. Burton, I. Fortier.

618W   GAMETES: A fast, direct algorithm for generating pure, strict, epistatic models with random architectures. J. Fisher, R. Urbanowicz, J. Kiralis, N. Sinnott-Armstrong, T. Heberling, J. H. Moore.

619W   A systematic comparison of GWAS pathway analysis methods. H. Gui, M. Li, P. Sham, S. Cherny.

620W   Integration and visualization of genetic and genomic data using a 3-D video game engine. D. Hill, J. H. Moore.

621W   Systems genetics analysis of bladder cancer susceptibility using statistical epistasis networks. T. Hu, N. Sinnott-Armstrong, J. Kiralis, A. Andrew, M. Karagas, J. H. Moore.

622W   Optimized Rsq thresholds for quality control of MACH/minimac imputed genotypes. T. A. Johnson, H. Fujita, K. Hara, T. Tsunoda.

623W   Gene ontology analysis of genome-wide epistatic interactions supports a role for actin cytoskeletal genes in sporadic ALS. N. Kim, J. Fisher, P. Andrews, C. Read, K. Askland, B. Harris, J. H. Moore.

624W   The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Genotyping informatics and quality control for 100,000 subjects genotyped on the affymetrix axiom system. M. N. Kvale, S. Hesselson, T. Hoffmann, J. Gollub, T. Webster, Y. Zhan, Y. Lu, G. Mei, L. Walter, D. Ludwig, B. Dispensa, C. Schaefer, P. Y. Kwok, N. Risch.

625W   A genome-wide association identifies six loci associated with Chiari-like malformation in the Griffon Bruxellois breed. P. Lemay, Q.-H. Trinh, P. Knowler, M.-P. Dubé, S. Blott, G. A. Rouleau, C. Rusbridge, Z. Kibar.

626W   MaCH-Admix: Genotype imputation for admixed populations. Y. Li, Y. Liu, M. Li, W. Wang.

627W   A graphical representation of quality control metrics for next-generation sequencing. S. McGee, J. Smith, J. Furlong, I. Stanaway, I. Robertson, M. J. Rieder, D. A. Nickerson.

628W   Combining gene flow with exome sequencing in large family studies of complex disease. J. A. Morris, J. C. Barrett.

629W   Dyadic and heterophilic properties of SNPs with marginal effects across statistical epistasis networks. D. Ng, T. Hu, A. Andrew, M. Karagas, J. H. Moore.

630W   Phenotype-Genotype Integrator: Synthesizing genome-wide association study data with existing genomic resources. E. M. Ramos, D. J. Hoffman, H. A. Junkins, D. R. Maglott, J. Paschall, L. Phan, S. T. Sherry, M. Feolo, L. A. Hindorff.

631W   A software package for examining bisulfite conversion rates in methylation sequencing data. S. Sun, X. Yu.

632W   A simulation-based comparison of statistical tests for incorporating biological information into analyses of genome-wide data. J. L. Taylor, F. S. Goes, J. T. Leek, M. Pirooznia, F. Seifuddin, P. P. Zandi.

633W Unprogrammed presentation number

634W   Quantifying genome-wide pleiotropy. A. Tyler, J. Payne, A. Erives, J. H. Moore.

635W   Genetic heterogeneity detection using a learning classifier system. R. Urbanowicz, A. Granizo-Mackenzie, J. H. Moore.

636W   Trans-EQTL mapping using 55,000 samples allows for dissecting disease mechanisms. H. Westra, J. Karjalainen, G. J. te Meerman, R. C. Jansen, R. S. N. Fehrmann, C. Wijmenga, L. Franke.

637W   Genetic association of the Dickkopf 1 gene with Paget’s disease of bone. M. Beauregard, E. Gagnon, J. Morissette, J. P. Brown, L. Michou.

638W   The interaction between killer-cell immunoglobulin-like receptor genes and HLA alleles in susceptibility to psoriatic arthritis. V. Chandran, F. J. Pellett, R. Ayearst, R. A. Pollock, D. D. Gladman.

639W   Linkage analysis in an Australian population identifies a region affecting femoral neck BMD. S. C. Nguyen, J. R. Center, J. A. Eisman, T. V. Nguyen.

640W   Pathway-based analysis of bladder cancer genome-wide association study highlights metabolic detoxification, mitotic, and clathrin-mediated pathways. I. Menashe, J. Figueroa, M. Garcia-Closas, Q. Yang, D. Maeder, W. Wheeler, T. Picornell, M. Malatas, F. Real, N. Chatterjee, S. J. Chanock, D. T. Silverman, N. Rothman.

641W   Genetic analysis of prostate cancer using automatic computer programming. J. H. Moore, D. Hill, J. Fisher, N. Lavender, L. Kidd.

642W   Gastric cancer is associated with Native American ancestry in the Latin American (Peruvian) population. L. Pereira, R. Zamudio, G. Soares-Souza, R. Gilman, E. Tarazona-Santos.

643W   GSTM1 and GSTT1 copy numbers and mRNA expression in lung cancer. M. Rotunno, T. K. Lam, J. Lubin, A. Vogt, P. A. Bertazzi, N. E. Caporaso, M. T. Landi.

644W   Prevalence of beta thalassaemia. K. Sanwaria, M. Vashist, P. Abrol.

645W   Efficient detection of tumor somatic mutations using next-generation sequencing data. Z. Song, J. Long, J. He, W. Zheng, C. Li.

646W   High-resolution array-CGH analysis of germline DNA in a melanoma-prone family linked to chromosome 9p21. R. Yang, J. Struewing, S. Chanock, M. Tucker, A. Goldstein, NCI Core Genotyping Facility.

647W   Genetics factors involved in MLIA susceptibility: An association study in a Portuguese sample. M. Alves-Ferreira, T. Pinho, A. Sousa, J. Sequeiros, C. Lemos, I. Alonso.

648W   The genetic underpinnings of exercise adherence. M. S. Bray, J. R. Fernandez.

649W   Association analysis of rare variants and alcohol level of response in the San Diego Sibling cohort. H. Choquet, G. Brush, J. Kasberger, M. Robertson, M. Schuckit, R. White, E. Jorgenson.

650W   No genetic association with CCR5, CD226 or RFX polymorphisms in Norwegian Addison’s disease patients. M. C. Eike, B. Skinningsrud, A. Stormyr, B. A. Lie, E. S. Husebye, D. E. Undlien.

651W   Genetic analysis of CAPN10 gene: A candidate region for the susceptibility to polycystic ovary syndrome. F. R. Faucz, I. R. Hauer, R. I. Werneck, M. Olandoski, R. B. Alexandre.

652W   Genetic and serologic evidence implicate IL6 as a susceptibility gene for leprosy type 2 reaction. V. M. Fava, A. L. M. Sousa, L. H. F. Sampaio, C. M. T. Martelli, M. B. Costa, M. T. Mira, M. M. A. Stefani.

653W   A combination of variations near NMU and NMUR2 coding regions identifies young women with significant lower bone mineral density at femoral neck. S. Giroux, V. Clément, A. Bureau, D. E. C. Cole, F. Rousseau.

654W   Testing GWAS SNPs for COPD and lung function in a Polish cohort with severe COPD. M. Hardin, J. Zielinski, E. Wan, C. P. Hersh, P. J. Castaldi, E. Schwinder, P. Sliwinski, I. Hawrylkiewicz, M. Cho, E. K. Silverman.

655W   Imputation-based association analysis within the ITGAM-ITGAX region identifies multiple common variants associated with SLE susceptibility in multiple ethnic populations. X. Kim-Howard, C. Sun, K. Kaufman, J. Kelly, J. James, P. Gaffney, K. Moser, G. Gilkeson, C. Langfeld, R. Kimberly, T. Vyse, M. Alarcón-Riquelme, A. Adler, G. Wiley, J. Harley, S. K. Nath, SLEGEN, PROFILE.

656W   Replication in Korean women of an association between a common variant in the breast cancer susceptibility gene, ZNF365, and a mammographic density measure that predicts breast cancer: The Healthy Twin Study. M. Lee, J. Lee, D. H. Lee, Y. M. Song, K. Lee, J. Stone, J. Hopper, J. Sung.

657W   Searching for modifiers of age-at-onset in familial amyloid polyneuropathy ATTRV30M : A candidate gene approach. D. Santos, T. Coelho, J. L. Neto, J. Pinto-Basto, J. Sequeiros, I. Alonso, C. Lemos, A. Sousa.

658W   In silico candidate gene study for childhood tooth decay. J. R. Shaffer, Z. Zeng, 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.

659W   Goldilocks variants: Prevalence and significance in association studies. D. Waterworth, L. Warren, M. Ehm, M. Nelson, V. Mooser.

660W   Common genetic variants underlie endometriosis and obesity-related traits. N. Rahmioglu, H. R. Harris, S. Macgregor, A. Morris, G. W. Montgomery, S. A. Missmer, C. M. Lindgren, K. T. Zondervan, International EndoGene Consortium, GIANT Consortium.

661W   Genes associated with cephalometric variation in the tricho-dento-osseous syndrome. M. E. Cooper, M. Govil, M. A. Torain, T. C. Hart, M. L. Marazita, J. T. Wright.

662W   Clinical and genetic epidemiology of Bardet-Biedl syndrome in Tunisia. O. Mhamdi, I. Ouertani, H. Chaabouni Bouhamed.

663W   A comprehensive evaluation of SNP weighting schemes for the analysis of uncommon genetic variants. A. Byrnes, Y. Li, M. Li.

664W   Association testing combining family-based and case-control designs. J. E. Cerise, W. C. L. Stewart.

665W   Evaluating type 1 error in large pedigree analyses. L. N. D'Aoust, A. C. Cummings, E. Torstenson, M. F. Davis, W. K. Scott, M. A. Pericak-Vance, M. D. Ritchie, W. S. Bush, J. L. Haines.

666W   A fast algorithm to optimize SNP prioritization for gene-gene and gene-environment interactions. W. Q. Deng, G. Paré.

667W   Interpreting meta-analyses of genome-wide association studies. B. Han, E. Eskin.

668W   Novel susceptibility loci for Crohn's disease, rheumatoid arthritis and type 1 diabetes identified using a data mining approach designed to detect weak associations. G. E. Hoffman, B. A. Logsdon, J. G. Mezey.

669W   A combined functional annotation score for non-synonymous variants. M. C. Lopes, C. Joyce, F. Cunningham, S. L. John, J. Asimit, E. Zeggini.

670W   Comparison of genome-wide association genotyping products for imputation of low-frequency and rare variants. A. Mahajan, B. Howie, C. Fuchsberger, R. D. Pearson, K. J. Gaulton, N. Robertson, N. W. Rayner, Y. Chen, I. Prokopenko, M. I. McCarthy, A. P. Morris on behalf of GoT2D Consortium.

671W   ParaHaplo 3.0: A program package for imputation and a haplotype-based whole-genome association study using hybrid parallel computing. K. Misawa, N. Kamatani.

672W   Privacy preserving meta-analysis of sequencing-based association studies. I. Pe'er, R. Banerjee, S. Zafer.

673W   Hardy-Weinberg equlibrium in triad designs. M. Rao, S. Venkatesan, S. Kasala.

674W   KELVIZ: A graphing and annotating tool for statistical evidence in human genetics. S. Seok, B. Nouanesengsy, V. J. Vieland.

675W   A tool to test for functional enrichment of GWAS hits. C. Tang, M. Ferreira.

676W   Sex-specific prediction of genomic segments shared IBD by family members, with applications in disease mapping by family-based sequencing. M. Vigeland.

677W   An algorithm for splitting and trimming large pedigrees. Q. Yang, M. Chen.

678W   Copy number variations detection using family data. J. Chu, I. Ionita-Laza, A. Rogers, K. Darvishi, R. Mills, G. Maier, B. Klanderman, C. Lee, B. Raby.

679W   Cheek swabs, SNP chips, and CNVs: Assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping microarray. S. W. Erickson, S. L. MacLeod, C. A. Hobbs.

680W   A likelihood-based framework for association analysis of allele-specific copy numbers. Y. J. Hu, W. Sun, D. Y. Lin.

681W   Detection of copy number variation in whole exome sequencing data using read-depth of coverage. J. Lihm, V. Makarov, T. O'Grady, G. Cai, N. Takahashi, E. Parkhomenko, M. Gazdoiu, J. Buxbaum, S. Yoon.

682W   Detecting chromosomal inversion polymorphisms using principal components analysis. J. Ma, C. Amos.

683W   Performances of copy number variant detection algorithms applied to SNP-array and impact on GWAS results. G. Marennne, S. J. Chanock, L. Pérez-Jurado, N. Rothman, B. Rodríguez, M. Kogevinas, M. García-Closas, D. T. Silverman, F. X. Real, N. Malats, E. Génin.

684W   Genome-wide analysis shows enrichment of copy-number variations in preeclampsia patients. L. Zhao, E. Triche, A. Saftlas, J. Hoh, A. DeWan.

685W   Admixture analyses of lipoprotein (a) levels. M. de Andrade, M. Matsumoto, T. Lesnick, E. Boerwinkle, S. Kardia, I. Kullo.

686W   The associasion between genetic polymorphism of TGF-β1 and obesity in Nan-tou County in Taiwan. P. Lin, Y. Hsiao, R. Wang, F. Wu, C. Chen, T. Wu.

687W   The effect of a family history of myocardial infarction on the risk of venous thromboembolism among White and Black Americans. F. D. Mili, W. C. Hooper, C. Lally, H. Austin.

688W   Previously identified obesity loci display longitudinal differences in their effect on BMI through adolescence. S. D. Bailey, J. O’Loughlin, N. C. Low, E. Dugas, N. Rudzicz, K. Desbiens, M.-H. Roy-Gagnon, M. Lambert, J. C. Engert.

689W   The developmental signature of steroid response genes in the human fetal lung. S. Sharma, A. Kho, W. Qiu, R. Gaedigk, J. S. Leeder, S. T. Weiss, K. G. Tantisira.

690W   FTO genotype independently and strongly influences both adiposity and insulin resistance in the Mapuche of Chile. M. E. S. Bailey, C. A. Celis-Morales, N. Ulloa, C. Calvo, F. Pérez-Bravo, J. M. R. Gill.

691W   TCF7L2 polymorphisms/haplotypes association with T2D in an Italian population and correlation with some complications. C. Ciccacci, D. Di Fusco, L. Cacciotti, V. Spallone, G. Novelli, P. Borgiani.

692W   Investigating the PARL / ABCC5 gene region as a susceptibility locus for type 2 diabetes. K. Direk, W. Lau, K. Small, H. Elding, N. Maniatis, T. Andrew.

693W   Comprehensive evaluation of type 2 diabetes susceptibility in the Japanese population by genome-wide imputation analysis using the 1000 Genomes Project data. K. Hara, H. Fujita, T. A. Johnson, M. Horikoshi, S. Maeda, T. Tsunoda, M. Kubo, Y. Nakamura, T. Kadowaki.

694W   Modeling HLA epistatic interactions using a unified GWAS and linkage analytical method maps new putative genes for type 1 diabetes. Y. Huang, Y. Tomer, V. J. Vieland.

695W   Admixture mapping reveals potential novel loci for type II diabetes in African Americans using electronic medical records as a tool for genome science. J. Jeff, L. Armstrong, M. Ritchie, J. Denny, A. Kho, M. Basford, W. Wolf, J. Pacheco, K. Doheny, D. Mirel, E. Pugh, A. Crenshaw, R. Li, T. Manolio, R. Chisholm, D. Roden, G. Hayes, D. Crawford.

696W   A MAGIC study of genome-wide joint meta-analysis of SNP by BMI interaction identifies 14 common variants associated with fasting insulin and glucose homeostasis. A. Manning, R. A. Scott, M.-F. Hivert, J. Grimsby, C.-T. Liu, H. Chen, L. Bielak, L. Rasmussen-Torvik, J. Dupuis, J. C. Florez, R. M. Watanabe, C. Langenberg, J. B. Meigs, MAGIC.

697W   Impact of loci contributing to type 2 diabetes susceptibility on variation in physiologic glycaemic traits in healthy individuals. M. McCarthy, A. S. Dimas, V. Lagou, R. Mägi, A. Barker, D. Rybin, M.-F. Hivert, T. Assimes, T. Quertermous, M. Walker, I. Barroso, C. Langenberg, J. C. Florez, R. M. Watanabe, J. Knowles, J. Dupuis, E. Ingelsson, I. Prokopenko, GENESIS, DIAGRAM, MAGIC.

698W   Large-scale sex-differentiated meta-analysis reveals four novel susceptibility loci for type 2 diabetes. A. P. Morris, T. Ferreira, T. M. Teslovich, A. Mahajan, B. F. Voight, DIAGRAM Consortium.

699W   Fine-mapping of type 2 diabetes risk loci in African Americans using the Metabochip: The PAGE Study. F. R. Schumacher, K. E. North, J. Haessler, K. L. Spencer, N. Franceschini, K. R. Monroe, B. V. Howard, R. D. Jackson, W. H. L. Kao, L. N. Kolonel, S. Liu, V. Aroda, L. H. Kuller, L. R. Wilkens, L. A. Hindorff, J. L. Ambite, L. Le Marchand, D. C. Crawford, S. Buyske, J. S. Pankow, U. Peters, C. A. Haiman, Population Architecture Using Genomics and Epidemiology.

700W   Genetic variants associated with diabetes related circulating metabolite levels and their role in type 2 diabetes and insulin sensitivity. W. Xie, A. R. Wood, M. N. Weedon, J. W. Knowles, T. L. Assimes, T. Quertermous, F. Abbasi, J. Paananen, H. Häring, T. Hansen, O. Pedersen, U. Smith, M. Laakso, E. Ferrannini, W. E. Gall, T. M. Frayling, M. Walker, MAGIC Investigators, DIAGRAM Consortium, GENESIS Consortium, RISC Consortium.

701W   Assessing RNA-seq differential expression levels with low-confidence mapped reads. M. Pongpanich, J. Y. Tzeng, D. Nielsen.

702W   Quantitative trait analysis for next-generation sequencing. Y. Zhu, L. Luo, M. Xiong.

703W   Heritability of densitometric, structural and strength properties of bones in extended pedigrees from Spain: Data from the GAO Project. G. Athanasiadis, J. Malouf, A. Laiz-Alonso, A. Marin, A. Martinez-Perez, L. Rib, R. Perez, A. Buil, J. Casademont, J. Farrerons, J. M. Soria.

704W   Estimating causal effects in Mendelian randomization studies: How different is that from randomized controlled trials? K. Fischer, M. Kals, A. Metspalu.

705W   Novel genetic locus for kidney stone using diverse ancestry populations: The Women’s Health Initiative Study. N. Franceschini, A. Reiner, T. Chi, M. L. Stroller, A. Kahn, C. Carty, Y. Li, T. L. Edwards, R. Jackson.

706W   G80A polymorphism in the RFC-1 gene in rheumatoid arthritis Mexican mestizo patients treated with methotrexate. M. G. González-Mercado, M. P. Gallegos-Arreola, M. C. Morán-Moguel, M. Salazar-Páramo, J. F. Muńoz-Valle, A. Moreno-Andrade, G. Martínez, J. I. Gámez-Nava, L. González-López, I. P. Dávalos.

707W   Genotype imputation in African Americans: An evaluation for selecting an optimal reference panel. D. B. Hancock, J. L. Levy, G. Page, E. O. Johnson.

708W   FCGR2A is the first ulcerative colitis susceptibility gene in African Americans. C. Huang, S. E. Ellis, B. Kuhr, K. L. Isaacs, A. L. Silverman, J. D. Lewis, D. T. Smoot, J. F. Valentine, H. A. Kader, J. H. Cho, R. H. Duerr, J. D. Rioux, M. Silverberg, K. D. Taylor, Y. Wu, S. Hooker, R. A. Kittles, L. W. Datta, S. R. Brant, NIDDK IBD Genetics Consortium.

709W   Association of osteoarthritis and serum bilirubin level — A Framingham Heart Study. J. Lin, N. Jeffries, F. Kronenbery, S. Hwany, L. Vitek, H. Schwertner.

710W   Distribution of mitochondrial haplogroups in the National Health and Nutrition Examination Surveys. S. Mitchell, K. D. Brown-Gentry, P. Mayo, M. Allen, N. Schnetz-Boutaud, D. Murdock, D. C. Crawford.

711W   Identifying independent genetic associations in complex disease using penalized multivariate logistic regression and hierarchical modeling: A case study on systemic lupus erythematosus. D. L. Morris, J. Bentham, M. E. Alarcón-Riquelme, J. D. Rioux, T. J. Vyse, BIOLUPUS.

712W   Prevalence of spinocerebellar ataxia type15 in Japan screened with TaqMan PCR assay. M. Obayashi, M. Takahashi, Y. Niimi, N. Sato, O. Onodera, K. Ishikawa, M. Nishizawa, H. Mizusawa.

713W   Impact of the Amerindian genetic ancestry on the clinical and socio-demographic expression of systemic lupus erythematosus in a European-Amerindian admixed population. E. Sanchez, L. Riba, A. Rasmussen, J. A. Kelly, K. M. Kaufman, E. Acevedo, M. H. Cardiel, E. E. Brown, G. S. Alarcon, J. C. Edberg, J.-M. Anaya, J. F. Moctezuma, J. A. James, J. D. Reveille, M. Petri, R. Ramsey-Goldman, P. M. Gaffney, I. Garcia de la Torre, C. Perandones, P. Alba, J. Musurana, A. Goecke, J. A. Esquivel-Valerio, M. A. Maradiaga-CecEńa, T. Tusie-Luna, J. B. Harley, B. A. Pons-Estel, C. O. Jacob, M. E. Alarcon-Riquelme, SLEGEN and GENLES.

714W   Using multiple measures for quantitative trait association analyses: Application to estimated glomerular filtration rate. A. Tin, B. C. Astor, E. Boerwinkle, E. Colantuoni, J. Coresh, W. H. Kao.

715W   A comparison of approaches to control for confounding factors by regression models. C. Xing, G. Xing.

716W   Association between 11q23-25 region and triglyceride in metabolic syndrome. M. S. Fallah, M. S. Daneshpour, S. Alfadhli, A. Rebai, M. Hedayati, M. Zarkesh, F. Azizi.

717W   Using linkage data to prioritize analysis of data from whole exome sequencing. T. Foroud, D. Koller, D. Lai, H. Lin, N. Pankratz, Y. Liu, R. Deka, L. Sauerbeck, H. Ling, K. Doheny, E. Pugh, J. Broderick, Ctr. for Inherited Dis. Res. and The FIA Study.

718W   Age-related macular degeneration in an Amish population: The reliability of self reporting disease. J. L. Haines, A. C. Cummings, D. Fuzzell, A. Agarwal, J. Gauthier, R. Laux, W. K. Scott, M. A. Pericak-Vance.

719W   Identification of loci enriched for nuclear-encoded mitochondrial proteins underlying mobility in oldest-old Amish. J. E. Hicks, J. R. Gilbert, L. Jiang, A. C. Cummings, L. Caywood, L. Reinhart-Mercer, D. Fuzzekk, C. Knebusch, R. Laux, C. E. Jackson, M. A. Pericak-Vance, J. L. Haines, W. K. Scott.

720W   Pedigree-based imputation infers pure in silico genotypes and improves power for genetic associations: The Framingham Heart Study. J. Huang, M. H. Chen, W. M. Chen, C. J. O'Donnell, Q. Yang.

721W   Integrating sparse and dense marker data to interrogate a linkage signal. E. Marchani, E. Wijsman.

722W   The role of rare genetic variation in Asperger syndrome in Finnish families. M. Rossi, K. Rehnström, H. Kilpinen, I. Hovatta, S. Ripatti, A. Palotie.

723W   Individuals with both type 1 diabetes and celiac disease autoimmunity carry private risk variants for both diseases. J. Romanos, G. Trynka, L. Franke, M. Platteel, S. A. Medema-Jankipersadsing, A. K. Steck, J. M. Norris, G. Eisenbarth, M. Rewers, E. Liu, C. Wijmenga.

724W   Genome-wide interaction analysis of exogenous estrogen in age-related macular degeneration: Novel association of retinitis pigmentosa and retinoblastoma loci. M. D. Courtenay, A. C. Naj, W. H. Cade, P. L. Whitehead, I. Konidari, S. G. Schwartz, J. L. Kovach, A. Agarwal, G. Wang, J. L. Haines, M. A. Pericak-Vance, W. K. Scott.

725W   Entropy-based information gain approaches to detect and to characterize gene-gene and gene-environment interactions/correlations of complex diseases. R. Fan, Z. Zhong, S. Wang, Y. Zhang, A. Andrew, M. Karagas, J. Moore, S. Chen, C. Amos, M. Xiong.

726W   Genotype x sex interactions in asthma: Genome-wide studies in the EVE Consortium data. R. Myers, N. Scott, C. Ober, D. Nicolae, EVE Consortium.

727W   The association between genetic polymorphism of LEP and obesity in remote area in Taiwan. R. Wang, L. Ke, C. Chen, F. Wu, T. Wu.

728W   A unified Bayesian framework for analyzing heterogeneous genetic association data: Meta-analysis and GxE interaction. X. Wen, M. Stephens.

729W   Genome-wide interaction analysis of two independent schizophrenia datasets. D. Xie, Y. Zhu, J. Chen, M. Xiong, X. Chen.

730W   Characterization of the associations between rs2231142 (Q141K) in ABCG2 and serum uric acid and gout in four U.S. populations: The PAGE Study. L. Zhang, K. L. Spencer, V. S. Voruganti, N. Jorgensen, M. Fornage, L. Best, K. D. Brown-Gentry, S. Cole, D. C. Crawford, N. Franceschini, A. Gaffo, K. R. Glenn, G. Heiss, N. S. Jenny, A. Köttgen, Q. Li, K. Liu, K. E. North, J. G. Umans, W. H. Kao.

731W   Prostate cancer risk prediction using a genetic profile in an international consortium (PRACTICAL). A. Amin Al Olama, S. Benlloch, D. A. Leongamornlert, E. J. Saunders, M. Tymrakiewicz, M. Guy, K. Govindasami, Z. Kote-Jarai, R. A. Eeles, D. F. Easton, PRACTICAL.

732W   A simulation pipeline for genetic disease models. H. Baurecht, T. Augustin, S. Wagenpfeil, K. Strauch, P. A. Scheet.

733W   APOL1 variant modifies the HDL-kidney function association in populations of African ancestry. A. R. Bentley, A. Doumatey, H. Huang, J. Zhou, D. Shriner, A. Adeyemo, C. Rotimi.

734W   Fine-mapping CASP8 risk variants in breast cancer. N. J. Camp, M. Parry, S. Knight, R. Abo, L. A. Cannon-Albright, G. Elliot, S. Rigas, S. P. Balasubramanian, A. Cox.

735W   A weighted Fisher’s method to detect rare-variant complex trait associations using next-generation sequence data. Y. H. Cheung, G. Wang, S. M. Leal, S. Wang.

736W   How can genotype imputations contribute to the identification of disease causal variants in genome-wide association studies? E. Corda, M. Brossard, M. M. Iles, J. H. Barrett, A. M. Goldstein, P. Kanetsky, E. M. Gillanders, B. Bakker, N. Gruis, J. A. Newton-Bishop, D. T. Bishop, F. Demenais, Melanoma Genetics Consortium (GenoMEL).

737W   A novel pairwise shared genomic segment statistic comparing cases and controls: Application to polycythemia vera. K. Curtin, S. Swierczek, F. Lorenzo, A. Thomas, K. Wang, H. Hakonarson, J. Prchal, N. Camp.

738W   Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathway. J. Deelen, H. W. Uh, R. Monajemi, D. van Heemst, P. E. Thijssen, S. Böhringer, E. B. van den Akker, A. J. M. de Craen, F. Rivadeneira, A. G. Uitterlinden, R. G. J. Westendorp, J. J. Goeman, P. E. Slagboom, J. J. Houwing-Duistermaat, M. Beekman.

739W   The ANO3/MUC15 locus is associated with eczema in family samples ascertained through asthmatics. M. H. Dizier, P. Jeannin, A. M. Madore, J. Esparza, M. Moffatt, E. Corda, F. Monier, I. Annesi, J. Jsut, I. Pin, F. Kauffmann, W. Cookson, Y. A. Lee, C. Laprise, M. Lathrop, E. Bouzigon, F. Demenais.

740W   Distinguishing gene-gene interaction from heterogeneity. E. N. Drill, R. L. Subaran, D. A. Greenberg.

741W   Using known genotype-phenotype associations to detect sample mix-up. C. T. Ekstrom, B. Feenstra.

742W   Fine mapping in over 10,000 rheumatoid arthritis cases and 14,000 controls refine associations to known loci, indicate multiple independent affects and reveal novel associations. S. Eyre, J. Bowes, A. Barton, S. Raychaudhuri, C. Amos, D. Diogo, A. Lee, L. Klareskog, L. Padyukov, E. Stahl, P. K. Gregersen, R. Plenge, J. Worthington.

743W   Re-ranking sequencing variants in the post-GWAS era. L. L. Faye, S. B. Bull, L. Sun.



744W   DNA methylation involved in chemobrain. R. He, J. Eggert, P. Tate, L. Larcom, C. Chen.

745W   Advanced methods for genome-wide methylation detection reveal novel epigenetic dynamics of leukemia. A. Akalin, M. Figueroa, F. Garrett-Bakelman, M. Kormaksson, J. Busuttil, A. Melnick, C. E. Mason.

746W   Epigenomic dysregulation of enhancer elements in cancer. B. Akhtar-Zaidi, A. Saiakhova, J. Willis, S. Markowitz, P. Scacheri.

747W   Methylation signature of breast cancer metastasis. Z. Barekati, R. Radpour, X. Y. Zhong.

748W   Epigenetic pattern, mRNA and protein expression of E-cadherin and caveolin-1 in gastric adenocarcinoma. C. O. Gigek, M. F. Leal, P. N. O. Silva, L. C. F. Lisboa, E. S. Chen, D. Q. Calcagno, E. M. Lima, P. P. Assumpçăo, R. R. Burbano, M. A. C. Smith.

749W   Association of DNA methylation pattern with parental smoking in acute lymphoblastic leukemia cases. L. Hsu, J. Xiao, A. Chokkalingam, C. Metayer, P. Buffler, J. Wiemels.

750W   The difference in methylation status of the p53 gene in smokers versus non-smokers. M. Simkin, M. Abdalla, M. Elmogy, Y. Haj-Ahmad.

751W   The role of MBD2 in hypomethylation and activation of pro-metastatic genes in liver cancer. B. Stefanska, B. Bhattacharyya, M. Suderman, J. Huang, M. Hallett, Z. G. Han, M. Szyf.

752W   OxLDL causes both epigenetic modification and signaling regulation on the microRNA-29b gene: Novel mechanisms for cardiovascular diseases. K. C. Chen, I. C. Hsieh, Y. S. Wang, Y. C. Liao, C. Y. Hu, S. H. H. Juo.

753W   Epigenetics and genomics of constitutional trisomy 8: A uniqe model system for chromosome gain. J. Davidsson, S. Veerla, B. Johansson.

754W   Effect of histone 4 methylation at BDNF expression after antidepressant treatment on human prefrontal cortex. E. S. Chen, C. Ersnt, M. A. C. Smith, G. Turecki.

755W   Epigenetic regulation of polyamine biosynthetic genes in suicide. J. Gross, L. Fiori, B. Labonté, G. Turecki.

756W   Impact of genetic variation on chromatin state and genome-wide gene expression phenotypes. H. Kilpinen, S. Waszak, R. M. Witwicki, A. Orioli, S. Raghav, M. Gutierrez-Arcelus, L. Romano-Palumbo, N. Hernandez, B. Deplancke, A. Reymond, E. T. Dermitzakis.

757W   Analysis of DNA methylation supports variable spread of X-chromosome inactivation into X;autosome translocations. A. Cotton, L. Lam, M. Kobor, C. Brown.

758W   Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome. S. Horike, D. H. Yasui, W. Powell, D. I. Schroeder, M. Oshimura, J. M. LaSalle, M. Meguro-Horike.

759W   Copy number variation and chromatin structure. R. M. Witwicki, E. Migliavacca, N. Gheldof, G. Didelot, A. Kurg, A. Reymond.

760W   Methlyation differences between discordant monozygotic twins: A role for cysteine sulfinic acid decarboxlase in type 1 diabetes susceptibility. E. Elboudwarej, J. Jeffrey, P. R. Fain, P. P. Ramsay, H. Quach, J. A. Lane, G. S. Eisenbarth, L. F. Barcellos, J. A. Noble.

761W   Influence of DNA modification on INS gene expression in thymus and implications in type I diabetes. T. Khare, M. Pal, S. C. Chong, A. Pugliese, A. Paterson, J. Mill, A. Petronis.

762W   Epigenetic alterations and stress among new mothers and infants in the Democratic Republic of Congo: A biocultural look at the intergenerational effects of war. C. J. Mulligan, N. D'Errico, J. Stees, C. C. Gravlee, T. P. Yang.

763W   Role of CTCF protein in regulating FMR1 gene transcription. G. Neri, S. Lanni, M. Goracci, L. Borrelli, E. Tabolacci.

764W   DNA methylation of multiple promoter-associated CpG islands in gastrointestinal stromal tumors. M. Ravnik-Glavač, D. Glavač.

765W   Epigenetic studies of a newborn twin cohort: Insights into pre- and postnatal development. J. M. Craig, E. J. Joo, R. Andronikos, M. Ollikainen, X. Li, Y.-J. Loke, B. Novakovic, R. Morley, J. Carlin, L. Gordon, R. Saffery.

766W   Genome-wide DNA methylation in sib-pairs discordant for autism. R. S. Alisch, P. Chopra, K. E. Szulwach, B. G. Barwick, B. Lynch, J. Mowrey, G. A. Satten, K. N. Conneely, P. Jin, S. T. Warren.

767W   Familial and environmental determinants of methyl quantitative trait loci genome-wide in nuclear families. L. Liang, S. G. Willis-Owen, K. C. C. Wong, A. Binia, P. J. Farrell, G. M. Lathrop, G. Abecasis, M. F. Moffatt, W. O. C. M. Cookson.

768W   Alterations in DNA and nuclear lamina interactions and chromatin organization in Hutchinson-Gilford progeria syndrome. A. Nazario-Toole, K. Cao.

769W   Reversal of cocaine-conditioned placed preference through methyl supplementation: altering global DNA methylation in the prefrontal cortex. M. Zhao, W. P. Tian, M. Li, T. B. Song, M. Z. Li, L. Quan, S. B. Li, Z. S. Sun.

770W   Diverse neurodevelopmental abnormalities in a novel mouse model of Rett syndrome. J. LaSalle, D. Yasui.

771W   Involvement of genes encoding epigenetic regulators in genomic imbalance pathogenic for intellectual disability. F. R. Zahir, T. Tucker, S. Adam, D. Chai, A. D. Delaney, P. Eydoux, M. Griffiths, S. L. Langlois, J. L. Michaud, E. Tsang, J. M. Friedman.

772W   Epigenetic induction of fetal hemoglobin in CD133+ stem cells in vitro. D. Ali, M. Ahmadvand, M. Mahmoodinia Maymand, M. Soleimani, S. Abroun, S. kaviani, M. Noruzinia.

Gene Structure and Gene Product Function


773W   Investigation of exon 1 in FRDA gene in suspect Friedreich ataxia patients. M. Naseroleslami, K. Parivar, S. Sanjarian, M. Houshmand.

774W   Alternative splicing associated with unclassified variants in CFTR exon 3: Implications for CFTR-related disorders. A. Aissat, A. de Becdeličvre, L. Golmard, C. Costa, A. Chaoui, N. Martin, B. Costes, M. Goossens, E. Girodon, P. Fanen, A. Hinzpeter.

775W   Identification and tissue distribution of alternative splice variants in the ATP-binding cassette transporter ABCA2. R. M. Grimholt, C. Stormo, M. K. Kringen, J. P. Berg, A. P. Piehler.

776W   Pharmacological inhibition of JNK/ERK MAP kinase pathways attenuates mutant DFNA5-induced apoptosis. K. Op de Beeck, A. Schepers, N. Cools, V. F. I. Van Tendeloo, G. Van Camp.

777W   Quantification of chitinase transcripts in mouse tissues. M. Ohno, K. Tsuda, M. Sakaguchi, Y. Sugahara, F. Oyama.

778W   Regulation of gene expression of mammalian chitinases. F. Oyama, M. Ohno, K. Tsuda, M. Sakaguchi, Y. Sugahara.

779W   Expression of mouse chitinase in Escherichia coli and characterization of its properties. A. Kashimura, K. Ishikawa, K. Sekine, Y. Kida, M. Sakaguchi, Y. Sugahara, F. Oyama.

780W   Novel mutations in CYP21A2 gene and their influence on the enzyme activity and protein structure. A. L. G. Lusa, F. C. Soardi, G. Guerra-Junior, S. H. V. Lemos-Marini, M. P. de-Mello.

781W   New features for the new SIFT website ( P. Ng, J. Hu, N. L. Sim, G. Schneider.

782W   Functional study of peptidylarginine deiminase type 4 as genetic risk factor for RA. A. Suzuki, Y. Kochi, H. Shoda, K. Fujio, M. Yamanaka, E. Kanno, T. Sawada, R. Yamada, K. Yamamoto.

783W   Models of ε-sarcoglycan knockdown and their implications for the pathology of myoclonus dystonia. A. Given, D. E. Bulman, D. A. Grimes.

784W   Functional characterization of the 2p15-16 microdeletion. C. Harvard, R. Colnaghi, D. Alcantara, H. Hutter, C. Dunham, P. Pavlidis, J. Pan, R. Wildin, M. Nowaczyk, B. Maranda, C. Tyson, M. Hrynchak, S. Martell, Y. Qiao, J. Eichmeyer, J. J. A. Holden, M. E. S. Lewis, M. O’Driscoll, E. Rajcan-Separovic.

785W   Neuronal differentiation effect of huntingtin associate protein 1. A. Li, H. Yang, S. H. Li, X. J. Li.

786W   Sub-cellular localization of Y-Box protein 1 regulates proliferation, invasion, and increased mesenchymal phenotype in astrocytomas. X. Liu, D. Faury, C. Sollier, B. Meehan, N. Gerges, Z. Dong, P. Siegel, A. Korshunov, S. Pfister, J. Rak, N. Jabado.

787W   Functional analysis of a SNP in TSLP associated with asthma. L. Akhabir, A. J. Sandford.

788W   DYX1C1 affects cell migration by regulating neuronal migration genes and by interacting with cytoskeleton proteins. K. Tammimies, M. Vitezic, H. Matsson, S. Le Guyader, T. Burglin, T. Ohman, S. Stromblad, C. O. Daub, T. A. Nyman, J. Kere, I. Tapia-Paez.

789W   NNK metabolism by CBR1 and HSD11B1. A. Hull, J. Engle, N. Fredericksen, C. Gallagher, G. Chen, P. Lazarus, J. Muscat.

790W   Identification of novel fatty acid desaturase 1 isoforms: Localization and differential expression in tissues and mammalian cells. W. J. Park, K. S. D. Kothapalli, H. T. Reardon, P. Lawrence, J. T. Brenna.

791W   In vitro and in vivo functional analysis of ARHGAP31 Mutations, in Adams Oliver syndrome. D. Dafou, L. Southgate, R. D. Machado, K. M. Snape, M. Primeau, D. M. Ruddy, P. A. Branney, M. Fisher, G. J. Lee, M. A. Simpson, Y. He, T. Y. Bradshaw, B. Blaumeiser, W. S. Winship, W. Reardon, E. R. Maher, D. R. FitzPatrick, W. Wuyts, M. Zenker, N. Lamarche-Vane, R. C. Trembath.

792W   The retinoic acid-induced one gene (RAI1) is a positive regulator of CLOCK and an essential component of the circadian feedback loop of transcription. S. R. Williams, D. Zies, S. H. Elsea.

793W   Evaluation of maternal and fetal effects of polymorphisms involved in the folate metabolism on Down syndrome. J. M. Biselli, F. A. Poletta, B. L. Zampieri, C. C. Mendes, F. B. Machado, A. F. A. Silva, E. Medina-Acosta, J. S. Lopez-Camelo, E. E. Castilla, E. M. Goloni-Bertollo, E. C. Pavarino.

794W   A novel BBSome interacting protein is an ADP/ATP translocase, SLC25A31. X. Chamling, S. Seo, V. C. Sheffield.

795W   Cep290 function in localization of cilia proteins resulting in phenotypic heterogeneity of CEP290-associated disease. Y. Zhang, Q. Zhang, C. Searby, S. Seo, V. C. Sheffield.

796W   Loss of SQSTM1 copy number in Paget’s disease of bone. S. Guay-Belanger, E. Gagnon, J. Morissette, J. P. Brown, L. Michou.

797W   Functional evaluation of CLEC16A: Role in type 1 diabetes. M. Bakay, R. Pandey, L. Monaco-Shawver, J. Glessner, C. Kim, F. Mentch, J. Bradfield, S. Grant, C. Polychronakos, J. Orange, H. Hakonarson.

798W   Genotype-function correlation of APOE gene promoter polymorphism: In transcription control and in type 2 diabetes susceptibility. Y. Y. Ho, H. Geng, P. Law, M. Ng, T. Li, L. Y. Liang, T. F. Ge, K. B. Wong, C. Liang, R. C. Ma, W. Y. So, J. C. Chan.

799W   ITGAM coding variant, rs1143679 (R77H), is associated with systemic lupus erythematosus (SLE) susceptibility and affects its own expression in monocytes of SLE patients. A. K. Maiti, P. Motghare, C. Sandel, X. Kim-Howard, J.-M. Anaya, S. K. Nath.



800W   High-fidelity mapping of exome sequences improves outcomes in disease studies. T. Gaasterland, L. Edsall, A. Patel, S. Soares, R. Thompson, A. Wu, S. Head, P. Lee, D. E. Gaasterland, R. Ayyagari.

801W   mRNA diversity of genes by alternative splicing during neuronal differentiation of NT2 pluripotential human embryonal carcinoma cells by retinoic acid. T. Isogai, A. Wakamatsu, H. Sasaki, J. Imai, S. Watanabe.

802W   Global alternative splicing variation reflects ethnical diversity. J. W. Li, T. F. Chan.

803W   Alternative exon 1 usage defines a novel human hydroxymethylglutaryl-CoA reductase gene splice variant. C. Stormo, M. K. Kringen, R. M. Grimholt, J. P. Berg, A. P. Piehler.

804W   Optimized filtering of high throughput sequence variants in clinical cases from the National Institutes of Health Undiagnosed Diseases Program. D. R. Adams, M. Sincan, K. Fuentes Fajardo, C. Toro, C. F. Boerkoel, C. J. Tifft, W. A. Gahl, T. C. Markello, NIH Intramural Sequencing Center.

805W   CIDRSeqSuite 2.0: An automated analysis pipeline for next-generation sequencing. M. Barnhart, S. Griffith, K. Hetrick, J. Goldstein, B. Marosy, D. Mohr, B. Craig, L. Watkins, Jr., K. Doheny.

806W   DCAURS: A database for the identification of disease-causing regulatory SNPs. P. Beaulieu, D. Sinnett.

807W   Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. S. Bhaskar, D. Hanson, P. G. Murray, J. O'Sullivan, J. Urquhart, S. Daly, L. G. Biesecker, M. Skae, C. Smith, T. Cole, J. Kirk, K. Chandler, H. Kingston, D. Donnai, P. E. Clayton, G. C. M. Black.

808W   Integration of transposable elements dependent on genome landscapes. R. Campos-Sanchez, F. Chiaromonte, K. Makova.

809W   Resources for the 1000 Genomes Project. L. Clarke, H. Zheng Bradley, R. Smith, E. Kulesha, I. Toneva, B. Vaughan, P. Flicek, 1000 Genomes Project Consortium.

810W   Expanding the annotation of the human genome: Transcripts targeted for degradation and the noncoding genes. G. Despacio-Reyes, M. Suner, M. Thomas, A. Frankish, L. Wilming, J. Mudge, D. Manthravadi, M. Kay, V. Boychenko, A. Bignell, J. Gilbert, E. Griffiths, J. Loveland, C. Steward, J. Harrow, T. Hubbard.

811W   Connecting the genome with the metabolome: Novel bioinformatic approaches for integration and visualization. H. K. Dharuri, P. Henneman, K. Willems van Dijk, C. M. van Duijn, B. A. Oostra, P. A. C. 't Hoen, G. J. B. van Ommen.

812W   Unbiased cataloging of novel variations across the complete genome. S. Ghosh, J. Ebert, G. Nilsen, K. Pant, R. Drmanac.

813W   Identity by descent in sequenced exomes. A. Gusev, J. Zhuang, I. Pe'er.

814W   Using GWAs SNP arrays for quality control of DNA sequencing data. K. Hetrick, H. Ling, E. W. Pugh, B. D. Craig, B. A. Marosy, J. M. Romm, K. F. Doheny.

815W   EpiCenter: A novel framework for accurately identifying genome-wide changes with next-generation sequencing data. W. Huang, D. M. Umbach, N. V. Jordan, A. N. Abell, G. L. Johnson, L. Li.

816W   Joint genome assembly of populations, and potential impact on personal genomes. Z. Iqbal, G. McVean.

817W   Functional consequences of human genetic variant covariance. M. Kaganovich, M. Snyder.

818W   Using LifeScope™ software through cloud computing to analyze targeted resequencing enrichment data. D. Leon.

819W   Common SNPs in expression microarray probes impact eQTL studies. C. Liu, C. Zhang, K. Zhang, C. Chen, E. Gamazon, X. Zhang, J. A. Badner.

820W   dbNSFP 1.1: An integrated database of human non-synonymous substitutions and their functional predictions. X. Liu, X. Jian, E. Boerwinkle.

821W   Novel adipose and blood transcriptomic signatures of evoked inflammation in a healthy human subject. Y. Liu, J. F. Ferguson, B. Keating, Yi. Guo, B. D. Gregory, D. J. Rader, M. Li, M. P. Reilly.

822W   Multifactorial differential expression analysis to account for technical and biological variability in RNA-Seq and digital gene expression data. D. McCarthy, Y. Chen, E. J. C. de Geus, D. I. Boomsma, B. W. J. H. Penninx, G. B. van Ommen, P. A. C. 't Hoen, G. K. Smyth.

823W   Effective detection of rare variants in pooled DNA samples using cross-pool tailcurve analysis. T. Niranjan, A. Adamczyk, H. Bravo, M. Taub, S. Wheelan, R. Irizarry, T. Wang.

824W   Transcriptome and epigenome analysis in pancreatic cancer. H. Parikh, J. Jia, W. Xiao, X. Liu, I. Collins, G. Petersen, J. Powell, S. Thorgeirsson, L. Amundadottir.

825W   Phenome-wide association study for exploration of novel genotype-phenotype associations and pleiotropy using MetaboChip in the PAGE network. S. Pendergrass, E. S. Torstenson, J. L. Ambite, C. L. Avery, C. Cai, M. D. Fesinmeyer, C. Haiman, G. Heiss, L. A. Hindorff, C.-N. Hsu, C. Kooperberg, L. Le Marchand, Y. Lin, T. C. Matise, K. Monroe, K. E. North, L. R. Wilkens, S. Buyske, D. C. Crawford, M. D. Ritchie.

826W   Validation and comparison of variant calling pipelines for next-generation sequence. M. Pirooznia, F. Goes, J. Parla, I. Iossifov, R. McCombie, J. Potash, P. Zandi.

827W   An integrative genomics approach to detect and classify unusual patterns in glioblastoma multiforme. C. Rangel-Escareńo, K. Baca-Lopez, M. D. Correa-Rodriguez, R. Flores-Espinosa, R. Garcia-Herrera, C. I. Hernandez-Armenta, E. Hernandez-Lemus, A. Hidalgo-Miranda, A. J. Huerta-Verde, I. Imaz-Rosshandler, A. V. Martinez-Rubio, A. Medina-Escareno, R. Mendoza-Smith, M. Rodriguez-Dorantes, I. Salido-Guadarrama.

828W   Robust statistical methods for genome-wide eQTL analysis. M. Rantalainen, C. Holmes.

829W   Meta-analysis of multiple expression quantitative trait locus datasets results in large gains in regulatory variant identification. A. J. Rogers, J. Lasky-Su, B. E. Himes, T. Raj, N. Morar, M. F. Moffatt, V. J. Carey, B. Stranger, L. Liang, B. A. Raby.

830W   A visualization platform for interpretation of structural genomic data. T. Sante, S. Vergult, B. Menten.

831W   Twins, tissue and time: A comparison of genomic inference across monozygotic twins, DNA sources and longitudinal samples. P. Scheet, E. A. Ehli, X. Xiao, A. Abdellaoui, R. R. Althoff, J. J. Hottenga, K. A. Nelson, P. Huizenga, Y. Hu, M. Bartels, M. M. Goen-Blokhis, E. de Geus, J. Hudziak, G. E. Davies, D. I. Boomsma.

832W   The importance of variation databases in interpretation of exome sequencing. T. E. Scheetz, A. P. DeLuca, T. A. Braun, L. M. Streb, L. M. Affatigato, V. C. Sheffield, E. M. Stone.

833W   Comprehensive genomic analysis of tandemly repeated genes. A. Sharp, M. Brahmachary, A. Guilmatre, C. Borel, F. Cheung, P. Warburton.

834W   Extensive evolutionary changes in regulatory element activity during human origins are closely associated with altered gene expression and positive selection. Y. Shibata, N. Sheffield, O. Fedringo, C. C. Babbitt, M. J. Wortham, D. London, L. Song, A. K. Tewari, S. C. Parker, E. H. Margulies, G. A. Wray, T. S. Furey, G. E. Crawford.

835W   Limitations of the human reference genome sequence. T. Smith, N. Olson, J. Rosenfeld, C. Mason.

836W   In silico analyses of promoter regulatory targets in the iron metabolism pathway. N. J. Strickland, M. G. Zaahl.

837W   The eXtensible SeQuence file format: A better standard for sequencing reads. D. Thomas, C. Yang, M. Muller, S. Utiramerur, J. Zhang, P. Suri, A. Siddiqui.

838W   Yet another pipeline for the next-generation sequencing analysis. L. Tian, H. Hakonarson.

839W   The importance of reproducible research and genome geography. L. K. Vaughan, V. Srinivasasainagendra.

840W   The NCBO annotator and enrichment analysis with the human disease ontology. P. Whetzel, P. LePendu, R. Fergerson, M. Musen, N. Shah.

841W   Analysis of data from whole genome sequencing in clinical practice. E. A. Worthey, G. Kowalski, M. Tutaj, R. Lopez, W. Liu, W. Jin, P. Jayaraman, J. De Pons, J. Smith, D. Schauer, G. McQuestion, B. Taylor, D. P. Bick, H. J. Jacob, D. P. Dimmock.

842W   An integrative variant analysis suite for whole exome next-generation sequencing data. F. Yu, D. Challis, J. Yu, U. Evani, A. Jackson, S. Paithankar, C. Coarfa, R. Gibbs, A. Milosavljevic.

843W   Improved methods for filtering putative rare functional mutations for whole genome/exome-sequencing data analysis. G. Y. Yu, X. Zhang, Z. Wang, S. J. Chanock, M. Yeager, K. B. Jacobs.

844W   Comprehensive study of cis- and trans-acting eQTLs across 36 gene expressionGWAS. X. Zhang, V. Emilsson, D. Levy, C. J. O'Donnell, A. D. Johnson.

845W   Peripheral blood monocyte-expressed Anxa2 gene is involved in pathogenesis of osteoporosis in humans. H. W. Deng, F. Y. Deng, S. F. Lei, Y. Zhang, Y. L. Zhang, Y. P. Zheng, L. S. Zhang, R. Pan, L. L. Wang, Q. Tian, H. Shen, M. Zhao, Y. X. Wang Lundberg, Y. Z. Liu, C. J. Papasian.

846W   Interstitial microdeletion of chromosome 8q23-q24 in Langer-Giedion syndrome in association with maternal translocation. B. Min, W. Park.

847W   Large-scale meta-analysis of genome-wide association studies for fracture risk: The GEFOS Consortium. H. L. Oei, H.-F. Zheng, E. Ntzani, K. Estrada, P. M. Ridker, M. Garcia, Y.-H. Hsu, T. Lehtimäki, S. Trompet, S. Kaptoge, S. Wilson, Y. Liu, J. Eriksson, A. Kung, A. Vernon-Smith, C.-T. Liu, J. Viikari, R. L. Minster, N. Wareham, V. Aalto, S. A. Cummings, K.-T. Khaw, J. A. Cauley, P. C. Sham, T. Spector, J. Ioannidis, D. P. Kiel, D. Chasman, J. B. Richards, F. Rivadeneira.

848W   A susceptible haplotype within collagen 1 alpha 1gene influences bone mineral density and exacerbates risk of postmenopausal osteoporosis in India. M. Singh, P. P. Singh, S. Singh, P. K. Juneja, T. P. Kaur.

849W   Large-scale meta-analysis of genome-wide association studies for bone mineral density at radius identified susceptibility locus at Wnt16. H.-F. Zheng, L. Yerges-Armstrong, J. Eriksson, E. Duncan, B. Mitchell, C. Ohlsson, E. Streeten, M. Lorentzon, J. B. Richards.

850W   Pluripotent human cells differ in their ability to accommodate retrotransposition of engineered LINE-1 elements. J. Garcia-Perez, S. Heras, S. Morell, A. Macia, E. Blanco-Jimenez, M. Munoz-Lopez, P. Leone, M. Garcia-Canadas.

851W   Using the repeat architecture to discover new hotspots of copy number variation associated with autism spectrum disorder. S. Girirajan, M. Y. Dennis, B. P. Coe, C. Baker, T. H. Vu, M. Malig, C. Alkan, E. E. Eichler.

852W   Sequencing of the 22q11.2 deletion in velocardiofacial syndrome to identify genetic variants predisposing to schizophrenia. M. Guipponi, X. Bonilla Bustillo, C. Gehrig, S. Dahoun, S. Eliez, S. E. Antonarakis.

853W   The Allen Human Brain Atlas: Multi-scale transcriptional architecture of the human brain. E. Shen, D. Bertagnolli, C. Dang, A. Ebbert, D. Feng, A. Guillozet-Bongaarts, M. Hawrylycz, J. Hohmann, C. Lau, C. Lee, E. Lein, J. Miller, L. Ng, J. Phillips, Z. Riley, K. Smith, S. Sunkin, P. Wohnoutka, A. Jones.

854W   BrainSpan Atlas of the developing human brain. S. Sunkin, A. Bernard, T. Chen, G. Coppola, C. Dang, S.-L. Ding, A. Ebbert, O. Evgrafov, B. Fischl, M. Gerstein, D. Geschwind, A. L. Guillozet-Bongaarts, J. Hohmann, S. Horvath, T. Hyde, A. Jones, Y. Kawasawa, J. Kleinman, P. Levitt, M. Li, S. Mane, E. Shen, K. Smith, A. Stevens, D. Weinberger, P. Wohnoutka, M. Hawrylycz, J. A. Knowles, N. Sestan, E. Lein.

855W   Gene-based association analysis in pathways relevant to brain arteriovenous malformation. S. Weinsheimer, L. Pawlikowska, N. Bendjilali, P. Y. Kwok, J. G. Zaroff, S. Sidney, C. E. McCulloch, W. L. Young, H. Kim.

856W   Gene-set analysis of a genome-wide association study for colorectal cancer. S. Castellvi-Bel, J. J. Lozano, C. Ruiz-Ponte, C. Fernández-Rozadilla, A. Abulí, A. Castells, A. Carracedo, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

857W   An integrated high-throughput automated workflow for RNA and DNA extraction from FFPE samples for second generation sequencing. T. Guettouche, D. Hedges, J. Rantus, K. Slosek, I. Konidari, B. Hulme, A. Andersen, A. L. Diaz, R. Gentry, Y. Pasco, M. Pericak-Vance, J. Gilbert.

858W   From “gene desert” to cancer stem cell biomarker: Using public genomic data to take 8q24 from GWAS to the clinic. A. Hsu, J. Madhusoodanan, J. Su, M. Shekar, I. Kupershmidt.

859W   RNA-sequencing and allele-specific expression analysis identify strong allelic expression imbalance for a bladder cancer associated variant rs2294008 within the prostate stem cell antigen. I. Kohaar, A. Mumy, W. Tang, Y.-P. Fu, P. Porter-Gill, L. Prokunina-Olsson.

860W   Integrative molecular profiling in serous epithelial ovarian cancer for identification of biomarkers of chemoresistance. M. Koti, R. Vidal, P. Nuin, A. Haslesurst, J. Weberpals, T. Childs, P. Bryson, H. Feilotter, J. Squire, P. Park.

861W   Human genetics. B. Nasasira.

862W   Integrative analysis of whole-genome and transcriptome sequence data for metastatic triple negative breast cancer. A. Siddiqui, O. Sakarya, C. Barbacioru, J. Aldrich, S. Sinari, A. Christoforides, T. Izatt, J. Keifer, L. Hoang, S. Mousses, J. D. Carpten, D. Von Hoff, D. W. Craig.

863W   Detecting neoplasms of hematopoetic or lymphatic tissue as an incidental finding of GWAS within the electronic Medical Records and Genomics (eMERGE) Network. U. Schick, A. McDavid, N. Weston, K. Ehrlich, K. N. Newton, P. K. Crane, C. Laurie, C. Laurie, A. P. Reiner, R. D. Jackson, U. Peters, G. P. Jarvik, E. B. Larson, C. S. Carlson.

864W   Genetic architecture of adiponectin in Hispanic Americans from the IRAS Family Study. S. S. An, N. D. Palmer, A. Hanley, J. T. Ziegler, W. M. Brown, S. M. Haffner, J. M. Norris, J. I. Rotter, X. Guo, Y. D. I. Chen, L. E. Wagenknecht, C. D. Langefeld, D. W. Bowden.

865W   In search of regulatory variants in exfoliation glaucoma. M. A. Hauser, Y. Liu, S. E. Williams, B. T. Whigham, J. Wheeler, T. R. Carmichael, X. Qin, R. R. Allingham.

866W   Analysis of targeted exome-plus sequencing in a kidney transplantation outcome cohort. B. M. Herrera, S. M. Kurian, P. Langfelder, S. Horvath, T. Mondala, P. L. F. Tang, E. T. Lam, D. Solomon, P. Kwok.

867W   Tumor exome sequencing in patients with isolated bilateral micronodular adrenocortical disease identifies pathogenic somatic and germline mutations. A. Horvath, R. B. Alexandre, E. Saloustros, C. Wassif, A. Manning, P. Paschou, P. Briasoulis, S. Sigh, J. Epstein, I. Levi, J. Neimela, J. B. Oliveira, J. A. Carney, F. D. Porter, C. A. Stratakis.

868W   In search of a new vascular dementia: An exome sequencing approach to a Swedish multi-infarct family. M. Junna, A. Börjesson Hanson, C. Sundal, O. Andersen, M. Baumann, H. Kalimo, M. Pöyhönen, M. Viitanen.

869W   Genetic contribution to neuronal cell death in hippocampus induced by prolonged seizures in rats. C. Martin, P. Lema, L. Carmant, P. Cossette.

870W   Genetic variations in matrix metalloproteinases are associated with increased risk of ulcerative colitis. A. R. Morgan, D. Y. Han, W. J. Lam, C. M. Triggs, A. G. Fraser, M. Barclay, R. B. Gearry, L. R. Ferguson.

871W   Search for candidate genes that contributes to or protect from diabetic nephropathy in type 1 diabetes through exome sequencing. M. G. Pezzolesi, H. A. Keenan, J. C. Mychaleckyj, J. S. Dunn, S. S. Rich, J. H. Warram, G. L. King, A. S. Krolewski.

872W   Candidate gene identification in a pediatric patient with immune mediated enteropathy by whole genome sequencing and VAAST analysis. P. G. Ridge, Jr., R. L. Margraf, S. L. Guthery, M. Singleton, J. D. Durtschi, B. Moore, L. B. Jorde, M. Yandell, A. Kumanovics, K. V. Voelkerding.

873W   Association analysis of polymorphisms located in inflammation-related genes in obese Mexican patients. Y. Saldańa-Alvarez, MG. Salas-Martínez, S. Jiménez-Morales, A. Luckie-Duque, G. García-Cárdenas, AN. Pale- Hernández, H. Vicenteńo-Ayala, A. Carnevale-Cantoni, L. Orozco.

874W   A polygenic risk profile for Achilles tendinopathy incorporating components of the extracellular matrix degradation pathway. A. V. September, E. Nell, J. Cook, C. J. Handley, M. Collins.

875W   A genome-wide analysis of copy number variations in dyslexic families reveal duplications in language gene PCDH11X. A. M. Veerappa, J. S. Marita Priya, P. Padakannaya, N. B. Ramachandra.

876W   15q11.2-13.3 Chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain. D. H. Yasui, H. A. Scoles, S. Horike, M. Meguro-Horike, K. W. Dunaway, D. I. Schroeder, J. M. LaSalle.

877W   Functional characterization of DcR3 in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis. R. Pandey, C. Cardinale, S. Panossian, F. Wang, E. Frackelton, C. Kim, M. Frank, R. Chiavacci, K. Kachelries, S. Grant, R. Baldassano, H. Hakonarson.

878W   Detection of the 16p11.2 chromosomal rearrangements in two patients with global developmental delay and dysmorphism. E. Shin, C. Jung, K. Lee, H. Yeun, H. Jung.

879W   Strategies for analyzing allele specificity in ChIP-seq data. V. Vacic, N. Dewal, T. LaFramboise, M. L. Freedman, I. Pe'er.

880W   MitoDx and MitoNucleomeDx: Next-generation sequencing of the mitochondrial genome and nuclear genes synergistically enhances the diagnosis of mitochondrial disease. N. Neckelmann, C. Buzin, W. Scaringe, A. Zare, C. Boysen, M. Pold, R. Boles, S. Sommer.

881W   A comprehensive next-generation sequencing panel for molecular testing of primary ciliary dyskinesia (PCD) and PCD-like ciliopathies. S. Lee, S. Mexal, W. Guo, A. Kammesheidt.

882W   Detection of copy-number changes in Bardet-Biedl syndrome by targeted array CGH. A. Lindstrand, C. Carvalho, J. R. Lupski, N. Katsanis.

883W   ChIP-Enrich: An application for improved gene set enrichment testing of ChIP-Seq results. C. Lee, R. A. Smith, R. Welch, L. Scott, M. A. Sartor.

884W   Computational genomics for genome sequencing: Development of a pipeline graphical workflow environment. F. Macciardi, F. Torri, P. Petrosyan, Z. Liu, A. Zamanyan, P. Eggert, J. Pierce, A. Genco, J. A. Knowles, A. P. Clark, J. D. Van Horn, J. Ames, C. Kesselman, A. W. Toga, S. G. Potkin, I. Dinov.

885W   Molecular characterization of mutations in CYP21A2 gene from Indian congenital adrenal hyperplasia patients. N. Rehal, A. Bhansali, R. Walia, D. Dayal, G. Kaur, R. Prasad.

886W   De novo transcriptome assembly by pooling samples in case-control studies identifies novel events missed by alignment-based approaches. M. W. Snyder, R. P. Nair, L. C. Tsoi, T. Tejasvi, P. E. Stuart, B. Li, H. M. Kang, J. T. Elder, G. R. Abecasis.

887W   Complex structural polymorphisms predispose to 15q13.3 deletion syndrome. F. Antonacci, P. H. Sudmant, J. A. Rosenfeld, L. Vives, A. Stuart, T. A. Graves, R. K. Wilson, L. G. Shaffer, C. T. Amemiya, E. E. Eichler.

888W   Hydroxyurea induces de novo copy number variants in human cells. M. F. Arlt, A. C. Ozdemir, S. R. Birkeland, T. E. Wilson, T. W. Glover.

889W   A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation. N. Bendjilali, H. Kim, S. Weinsheimer, P. Y. Kwok, J. G. Zaroff, S. Sidney, C. E. McCulloch, W. L. Young, L. Pawlikowska.

890W   CNV load in recessive carrier status: Preliminary findings from exon-targeted array comparative genomic hybridization. P. M. Boone, C. Shaw, S. W. Cheung, A. L. Beaudet, P. Stankiewicz, A. Patel, J. R. Lupski.

891W   Copy number and allelic variation of immunoglobulin variable gene IGHV1-69 and HIV progression. F. Breden, C. Watson, J. Willsey, M. Brockman, F. Pererya, B. Walker.

892W   Hutterite genome sequencing identifies potential asthma genetic susceptibility variants. C. D. Campbell, M. Malig, A. Ko, L. Vives, B. J. O'Roak, C. Alkan, P. H. Sudmant, L. Han, M. Abney, M. J. Rieder, C. Ober, E. E. Eichler.

893W   dbVar: A database of genomic structural variation. D. Church, T. Hefferon, J. Lopez, J. Garner, N. Husain, M. DiCuccio, J. Paschall, M. Feolo, S. Sherry, D. Maglott.

894W   Genome-wide copy number detection and analysis in a large diabetes cohort implicates rare yet recurrent imbalances in INS, ABCC8 and KCNJ11. L. Davis, J. Below, A. Konkashbaev, K. Aquino-Michaels, V. Paz, E. Cook, G. Bell, N. Cox.

895W   Comparative analysis of high resolution array platforms reveals diverse genome-wide copy number variation detection in humans. R. R. Haraksingh, A. Abyzov, M. Gerstein, A. E. Urban, M. Snyder.

896W   Copy number variations in gene networks involving alternative splicing impact lifespan. C. E. Kim, J. T. Glessner, A. V. Smith, D. Hadley, K. Wang, S. Panossian, N. Takahashi, K. Thomas, F. Wang, T. Harris, L. Launer, B. Keating, G. Lyon, J. Connolly, P. M. A. Sleiman, J. D. Buxbaum, S. F. A. Grant, V. Gudnason, H. Hakonarson.

897W   Copy number variation and transcription levels of the PXE-gene ABCC6 and its pseudogenes. M. K. Kringen, C. Stormo, R. M. Grimholt, J. P. Berg, A. P. Piehler.

898W   Genome-wide analysis of rare CNVs in control populations. L.-P. Lemieux Perreault, E. Giannoulatou, M.-P. Dubé, C. Spencer, P. Donnelly, Wellcome Trust Case Control Consortium 2.

899W Unprogrammed presentation number

900W   Identification of a novel locus associated with the common birth defect spina bifida. L. Muthuswamy, A. G. Bassuk, R. Boland, M. Hakeman, J. Dierdorf, A. Hulstrand, G. Bonde, R. Cornell, D. W. Houston, J. R. Manak.

901W   Copy number variations are associated with osteoporotic fracture: The Framingham Osteoporosis Study. K. Nandakumar, C. L. Cheung, H. Zhou, Y. Zhou, C. T. Liu, S. Demissie, D. Karasik, A. Cupples, D. P. Kiel, Y. H. Hsu.

902W   High resolution map of canine copy number varistion. E. Nevalainen, J. Berglund, C. Hitte, A. Nyström, C. André, M. Webster, H. Lohi, K. Lindblad-Toh, LUPA Consortium.

903W   Detection of copy number variations in PARK2 and SNCA in Parkinson disease patients using NanoString® technology. K. Nuytemans, G. Bademci, L. Wang, S. Zuchner, F. Nahab, C. Singer, T. Guettouche, J. M. Vance.

904W   Detection of novel copy number variation in individuals with autism spectrum disorder using a comparative genomic hybridization array. A. Prasad, C. R. Marshall, B. Thiruv, J. Wei, J. L. Howe, D. Pinto, J. Rickaby, Q. Tran, S. W. Scherer.

905W   Discovery of pseudoautosomal region 3 redefines the structure and function of human X and Y chromosomes. N. B. Ramachandra, A. M. Veerappa, J. S. Marita Priya, P. Padakannaya.

906W   CNV detection using uncertainty of read mapping. Z. Wang, F. Hormozdiari, W. Yang, E. Eskin.

907W   Characterizing copy number variation at the human immunoglobulin heavy chain locus. C. T. Watson, K. M. Steinberg, R. L. Warren, F. Hach, J. B. Joy, T. Graves, R. K. Wilson, C. Sahinalp, R. A. Holt, E. E. Eichler, F. Breden.

908W   dbSNP: Database of short genetic variations. R. Maiti, H. Zhang, M. Kholodov, D. Shao, E. Shekhtman, D. Rudnev, K. Sirotkin, M. Ward, D. Maglott, M. Feolo, S. Sherry, L. Phan.

909W   Determination of RET sequence variation in an MEN2 unaffected cohort using multiple-sample pooling and massively parallel sequencing. R. Margraf, J. Durtschi, J. Stephens, M. Perez, K. Voelkerding.

910W   ALFRED: A resource for research and teaching. H. Rajeevan, U. Soundararajan, A. J. Pakstis, J. R. Kidd, K. K. Kidd.

911W   Tracing experimental process flow to the original biologics in genomic relational databases. S. Saccone, J. Quan.

912W   dbGaP: Genotype data processing and QC. N. Sharopova, J. Paschall, Z. Wang, L. Hao, Y. Jin, M. Kimura, S. Stefanov, S. Pretel, A. Sturcke, M. Feolo, S. Sherry.

913W   A relational database for next-generation sequencing data. C. Xu, Q. Tian, J. Li, H. W. Deng.

Technology Advancement


914W   An automated workflow for library preparation, target enrichment, and bioinformatics processing for large-scale 2nd generation resequencing studies. D. Hedges, T. Guettouche, C. Siebert, A. Griswold, C. Kroner, S. Slifer, M. Schmidt, P. Whitehead, I. Konidari, W. Hulme, A. Andersen, A. Lekas-Diaz, R. Gentry, Y. Pasco, A. Aviram, G. Beecham, M. A. Pericak-Vance, J. R. Gilbert.

915W   Flexible desktop software for genome assembly and variation analysis. M. Keyser, T. Durfee, T. Schwei, S. Baldwin, R. Nelson, D. Nash, D. Jurzcak, C. Stern, J. Stieren, A. Pollack-Berti, K. Maxfield, E. Ma, A. Niffenegger, K. Dullea, P. Pinkas, R. Solberg, G. Plunkett III, F. Blattner.

916W   Droplet Digital PCR™ as a powerful microscope to explore and optimize genomic assay designs. R. T. Koehler, S. Saxonov, N. Heredia, J. Regan.

917W   The CIDR Infinium WebLIMS: A modular, multi-product laboratory information management system for Illumina Infinium genotyping platforms. D. Leary, M. Barnhart, J. Goldstein, B. Craig, J. Romm, K. Doheny, L. Watkins, Jr.

918W   AnnTools: Genome annotation toolkit for SNP and CNV data from whole exome and whole genome sequencing data and microarrays. V. Makarov, T. O'Grady, G. Cai, J. Lihm, J. Buxbaum, S. Yoon.

919W   Generating large scale pedigree drawings for genetic studies. R. Mayani, G. Mehta, E. Deelman, K. Seth, J. Vöckler, F. Wang.

920W   Automated high-throughput analysis of personal genome sequences: Towards clinical interpretation. A. Russell, S. Chervitz, M. Yandell, E. Kiruluta, M. Reese, F. M. De La Vega.

921W   SNP genotyping using the Affymetrix® Axiom® Genome-Wide Yoruba YRI Array Set. M. Shapero, Y. Lu, M. Purdy, M. Shen, J. Gollub, Y. Zhan, T. Webster.

922W   Statistical approach to predicting functional effects of allelic variants from comparative sequence analysis. S. Sunyaev, I. Adzhubey, D. Jordan.

923W   Building an infrastructure for 21st century research: VIVO. M. R. Tennant, K. L. Holmes, M. Conlon, VIVO Collaboration.

924W   High-throughput annotation of genomic variants using a relational database system. L. Wiley, W. Bush.

925W   Biases in coverage and mutation detection of human coding exome by next-generation sequencing. G. Wu, M. Edmonson, L. Wei, M. Rusch, J. Easton, X. Chen, C. Mullighan, M. Dyer, T. Le, D. Alford, D. Zhao, A. Ulyanov, J. Downing, J. Zhang.

926W   A novel algorithm for detecting low frequency variants and somatic mutations at 1% frequency in hundreds of genes from heterogeneous research samples using the 5500 Genetic Analyzer. X. Xu, M. Storm, S. Mangul, Y. Sun, J. Ichikawa, R. Padilla, D. Hom, M. Rhodes, F. Hyland.

927W   Accurate and sensitive somatic mutation detection in heterogeneous cancer research specimens by castPCR technology. I. Casuga, D. Merrill, B. Ching, Y. Bao, D. Deng, D. Le Corre, S. Desai, R. P. Petraroli, T. Hartshorne, H. Blons, P. Laurent-Puig, C. Chen.

928W   A new sequencing workflow increases accuracy and 5’ resolution for capillary electrophoresis resequencing applications. C. Davidson, P. Ma, S.-C. Hung, S. Berosik, S. Schneider, V. Bourdon, T. Noguchi, H. Sobol, M. Wenz.

929W   Development of SureSelect target capture methods for sequencing on the Ion Torrent PGM system. A. C. Giuffre, J. Ong, M. Guadalupe, S. Joshi, H. Ravi, M. Visitacion, C. Pabón-Peńa, E. Lin, B. Novak, M. Hamady, F. Useche, D. Roberts, E. Leproust, S. Happe.

930W   Genomic structural rearrangement detection in highly aneuploid cancers using Long Fragment Read technology. B. A. Peters, B. G. Kermani, O. Alferov, J. Haas, R. Drmanac, T. D. Barber.

931W   5500 GATM system in combination with enhanced call chemistry enables the detection of low frequency genetic variation in heterogeneous samples. C. Storm, J. Ichikawa, R. Padilla, D. Hom, G. Meridith, C. Adams, X. Xu, Y. M. Sun, F. Hyland, M. Rhodes.

932W   Microsatellite instability and immunohistochemistry testing of colorectal tumors among U.S. cancer programs and follow-up of abnormal results. L. C. Beamer, D. J. MacDonald, C. Huizenga, H. Hampel, K. R. Blazer, M. Grant, J. N. Weitzel.

933W   A single SNP surrogate for HLA-Cw6 genotyping in diverse populations. R. P. Nair, P. E. Stuart, T. Tejasvi, P. A. Shaiq, R. Qamar, G. K. Raja, P. Kullavanijaya, J. Ding, Y. Li, J. J. Voorhees, G. R. Abecasis, J. T. Elder.

934W   A novel proteomics approach for identification of protein-RNA complex associated with specific gene loci using a human artificial chromosome. T. Seko, S. Yamaguchi, Y. Yoshimura, Y. Nakayama, M. Kato, T. Obayashi, M. Oshimura, H. Kugoh.

935W   Efficient computing of genotype calling for GWAS. S. Leo, I. Zara, M. Valentini, S. Sanna, G. Zanetti.

936W   Pegasus WMS: Enabling bioinformatics using workflow technologies. G. Mehta, E. Deelman, K. Vahi, Y. Wang, A. Clark, R. Mayani, T. Chen, J. Knowles.

937W   Handling the data management needs of high-throughput sequencing data and GWAS: SpeedGene, a C++ library for the fast and efficient storage of genetic data. D. Qiao, W. Yip, C. Lange.

938W   Software library and tools for efficient and flexible processing of sequence reads and variant calls. M. Trost, G. R. Abecasis, H. M. Kang.

939W   Improving mate-paired sequencing for submicrogram human samples. Z. Chen, M. Wei, T. Biorac, B. Li, X. Xu, G. Marnellos, R. Bennett.

940W   Methods for systematically reducing the uncertainty in calling copy number variations by combining information from multiple sources and technologies. D. S. Greer, D. Malhotra, W. Wu, J. Sebat, Psychiatric GWAS Consortium.

941W   Chromosome copy number variation by digital PCR. J. T. Wang, J. T. Kuykendall, J. F. Stevens.

942W   Evaluation of recruitment strategies for Web-based genetic studies. E. M. Drabant, K. E. Barnholt, C. Dijamco, J. Y. Tung, A. K. Kiefer, J. L. Mountain, A. Wojcicki.

943W   Scalable data management and computable framework for large scale longitudinal studies. L. Lianas, G. Cuccuru, S. Leo, I. Zara, M. Pitzalis, M. Zoledziewska, F. Deidda, S. Sanna, G. Zanetti.

Clinical Genetics and Dysmorphology


944W   The clinical and molecular genetic characteristics of Korean patients with argininosuccinate synthetase (ASS1) deficiency. B. W. Jeon, B. H. Lee, G. H. Kim, J. M. Kim, J. H. Choi, H. W. Yoo.

945W   Investigation of ECM1 mutation in lipoid proteinosis. F. Mahjoubi, S. Samanian, F. Izadi, M. M. Tavakoli, M. Farhadi.

946W   Proteinuria in infantile-onset spinocerebellar ataxia, type 2. R. K. Brar, C. Moore, L. Eviatar, R. Smith, C. Sethna, M. G. Bialer.

947W   Investigation of triplet repeat nucleotide in ATXN8OS gene in one SCA8 suspected patient. Z. Ghaderi Ardekani, M. Houshmand, O. Aryani, N. Chaparzadeh.

948W   CHARGE syndrome: Report a new case. E. Hernandez Gomez, L. Hernández Gómez, S. G. Juárez García, D. O. Gómez Torres.

949W   Otofaciocervical syndrome in a Mexican family. L. Hernandez-Gomez, E. Hernández Gómez, S. G. Juárez García, D. O. Gómez Torres.

950W   Velocardiofacial syndrome: Report of case. S. Juarez-Garcia, L. Hernández Gómez, E. Hernández Gómez, F. Castillo Lorca, D. O. Gómez Torres.

951W   Novel locus identified for branchio-oto-renal syndrome. A. Sun, K. Taylor, N. Kramer, J. M. Graham.

952W   Inherited systemic hyalinosis: A novel mutation and association with marked alpha-ketoglutaric aciduria. F. Al Murshedi, S. Al Sinani, R. Abdwani.

953W   A report of three patients with MMP2 associated hereditary osteolysis. M. S. Aglan, S. A. Temtamy, S. Ismail, A. M. Ashour, L. A. Hosni, T. H. El-Badry, E. H. A. Aboul-Ezz, K. Amr, E. Fateen, T. Maguire, K. Ungerer, A. Zankl.

954W   Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. A. M. Carlson, S. Kirmani, K. B. Thomas, N. M. Lindor.

955W   De novo microdeletion of chromosome region 1p36.12: Unmasking a rare autosomal recessive form of spondyloepimetaphyseal dysplasia. L. Dupuis, A. Guerin, E. Goh, A. Chaudhry, M. Shago, R. Zeller, D. J. Stavropoulos, R. Mendoza-Londono.

956W   Vitamin D status and decreased muscle function in children with neurofibromatosis type 1. S. M. Huson, C. W. Hockett, J. Eelloo, S. Roberts, J. Berry, C. Chaloner, Z. Mughal.

957W   Association study of common polymorphisms in human lysyl oxidase genes with adolescent idiopathic scoliosis. T. L. McGregor, C. A. Gurnett, M. B. Dobbs, C. A. Wise, J. A. Morcuende, T. M. Morgan, R. Menon, L. J. Muglia.

958W   Expanding the phenotype of the novel Ehlers-Danlos caused by mutations in the CHST14 gene. R. Mendoza-Londono, D. Chitayat, W. Kahr, A. Hinek, S. Blaser, L. Dupuis, E. Goh, A. Howard, L. Mittaz, A. Superti-Furga, S. Unger, G. Nishimura, L. Bonafe.

959W   Cherubism: Clinical, radiological and familial aspects in a large French family. G. Morin, S. Demachy, E. Cadet, B. Demeer, S. Testelin, S. De Broca, J. Rochette, B. Devauchelle, M. Mathieu.

960W   Ischiospinal dysostosis results from mutations in BMPER and is allelic with diaphanospondylodysostosis. L. Nevarez, S. Nampoothiri, O. Kim, A. Superti-Furga, D. H. Cohn.

961W   Parry Romber syndrome: Multidisciplinary evaluation of six patients by orthodontics and genetics at Hospital para el Nino Poblano, Mexico. S. Ochoa, J. Aparicio, E. Huitzil.

962W   Skeletal anomalies and severe language disorder with submicroscopic deletion in 12q13 including HOXC cluster. N. Okamoto, K. Shimojima, T. Yamamoto.

963W   Hereditary disorders of connective tissue in patients with intracranial hypotension syndrome. E. Reinstein, W. Schievink, M. Pariani, D. Rimoin.

964W   The Singleton-Merten syndrome calcification paradox is potentially associated with decreased TGFBRII expression. F. Rutsch, Y. Nitschke, I. Buers, O. Mamaeva, J. Dong, C. Müller, HG. Kehl, J. Kleinheinz, P. Barth, M. Daudon, D. Bazin, R. Hennekam, M. MacDougall.

965W   Crommelin-type symmetrical tetramelic reduction deformity: Report of a case with review of prenatal and postnatal findings, differential diagnosis and etiology. S. Sawyer, O. Caluseriu, J. Kohlhase, A. M. Innes.

966W   Head and neck pain in EDS: Significant co-morbidity. B. Tinkle.

967W   Candidate gene analysis of nonsyndromic sagittal craniosynostosis. X. Ye, A. Guilmatre, E. Jabs, Y. Heuzé, J. Richtsmeier, D. Fox, C. Druschel, R. Goedken, P. Romitti.

968W   Rasmussen encephalitis associated with other autoimmune disorders. F. Andermann, D. Amrom, D. Kinay, M. Guduk, D. Atakli, B. Arpaci, S. Berkovic, Y. Hart, E. Andermann, A. Bar-Or.

969W   Action myoclonus-renal failure syndrome: Founder effect in French Canadians. E. Andermann, D. Amrom, J. Mulley, M. Bayly, M. Jomphe, S. Berkovic, F. Andermann, L. Dibbens.

970W   Brain abnormalities in individuals with Beckwith-Wiedemann syndrome. D. Chitayat, K. Gardiner, S. Choufani, C. Shuman, S. Blaser, D. Terespolsky, P. Ray, B. Baskin, R. Weksberg.

971W   Glut1 deficiency syndrome with a SLC2A1 splice site mutation and normal erythrocyte glucose uptake. N. Ishihara, Y. Azuma, K. Yanagihara, S. Yokoi, T. Nakata, K. Aso, K. Ohno, J. Natsume.

972W   Distinct de novo deletions in a brother-sister pair with RTT: A case report. K. Mittal, N. Gupta, M. Kabra, R. Juyal, B. K. Thelma.

973W   Identification of a novel recurrent microdeletion at 2q11.2 associated with speech delay and ADHD. A. Patel, P. Hixson, P. Stankiewicz, S. W. Cheung, P. I. Bader.

974W   Neonatal epilepsy as a presenting symptom of infantile cerebral and cerebellar atrophy in a Caucasus Jewish child. A. Singer, A. Shaag, D. Lev, C. Vinkler.

975W   46, XY pure gonadal dysgenesis and pontocerebellar hypoplasia. K. Siriwardena, A. Guerin, S. Blaser, D. Chitayat.

976W   Mutation in MKI-67 in a family with intellectual disability and microphthalmia. M. Srour, M. E. Samuels, J. L. Michaud.

977W   Description of a patient with characteristic dysmorphic features and mental retardation associated with FGF12 gene deletion. L. Telvi, A. Rouen, A. Coussement, J. M. Dupont, I. Desguerre, M. C. Leroux.

978W   Ramon syndrome in a 38-year-old male. S. B. Turyk, M. Sakurai, C. Galliuss, E. Maloberti.

979W   Cutaneous manifestations in 9 patients with biallelic germline MUTYH mutations. F. Caux, A. Lévy, P. O. Schischmanoff, F. Coulet, F. Soubrier, Y. Parc, L. Laroche, C. Colas.

980W   A new case of Gorlin syndrome in Mexican female. N. Davalos, A. Rincon, C. Islas, R. Lopez, J. Ontiveros, D. Garcia, S. Ramirez, J. Olmos, S. Alonso, Genetic Variation Group.

981W   Pulmonary anomalies in a novel syndrome of macrocephaly, nephromegaly, and Wilms tumor reveals mechanistic etiologies for overgrowth syndromes. J. A. Martinez-Agosto.

982W   Gorlin syndrome: A familial case. I. M. Salazar-Dávalos, M. A. Aceves-Aceves, D. García-Cruz, N. O. Dávalos, M. G. González-Mercado, J. A. Cruz-Ramos, A. González-Mercado, S. A. Alonso-Barragán, C. Roa, I. P. Dávalos.

983W   Association between rs642961 and cleft lip and palate in Patagonia (ECLAMC) population. F. M. de Carvalho, A. R. Vieira, F. Poletta, J. C. Mereb, R. F. Fonseca, J. L. Camelo, E. E. Castilla, I. M. Orioli.

984W   IRF6, SNAP91, PRSS35 and CRISPLD2 contribute to the etiology of oral clefts in a Latin American population (ECLAMC). R. F. Fonseca, F. Poletta, F. M. Carvalho, E. E. Castilla, A. R. Vieira, I. M. Orioli.

985W   Phenotype characterization of a sibship with SDCCAG8-related disease. E. Héon, C. Deveault, G. Billingsley.

986W   Mutation screening of the LPP gene in patients with esophageal atresia, tracheoesophageal fistula, and VACTERL association. A. Hernandez-Garcia, E. Brosens, H. Zaveri, Z. Yu, C. Fernandes, A. Johnson, S. Lalani, D. Tibboel, A. de Klein, D. A. Scott.

987W   Case-parent trio genome-wide association study identifies several candidate loci for nonsyndromic sagittal craniosynostosis. C. M. Justice, Y. Kim, G. Yagnik, I. A. McMullen, H. Ling, P. A. Sanchez-Lara, V. Kimonis, J. Stoler, M. Cunningham, A. F. Wilson, S. A. Boyadjiev.

988W   Statistical and biological evidence for AXIN2/IRF6 interaction in oral facial clefting. A. Letra, B. Bjork, M. Copper, H. Szabo-Rogers, C. Brandon, J. Resick, K. Bardi, F. W. B. Deleyiannis, L. L. Field, A. E. Czeiczel, L. Ma, G. P. Garlet, F. A. Poletta, J. C. Mereb, J. S. Lopez-Camelo, E. C. castilla, I. M. Orioli, S. K. Wendell, K. L. Liu, M. L. Marazita, A. R. Vieira, R. Menezes.

989W   Refining the 2p15-p16 microdeletion syndrome. R. Lozano, W. Wilcox.

990W   Microduplication on chromosome 17q23.1q23.2 involving TBX4 is not a common cause of nonsyndromic clubfoot. W. Lu, C. A. Bacino, S. Richards, J. T. Hecht.

991W   Association analysis of MSX1, AXIN2, and PAX9 with palatally displaced canines in subjects exhibiting no lateral incisor agenesis. L. A. Morford, D. L. Kujak, G. Falcăo-Alencar, D. W. Fardo, J. V. Macri, J. K. Hartsfield, Jr.

992W   Comparison of neoplastic phenotypes in Cowden/Cowden-like syndrome characterized by germline SDHx variants, PTEN mutations versus KLLN epimutations. Y. Ni, M. H. Tan, K. Bennett, J. Mester, J. Chen, J. Moline, M. Orloff, C. Eng.

993W   Analyzing the contribution of GTF2IRD1 to Williams-Beuren syndrome: Mouse knockout phenotypes and molecular mechanisms. S. J. Palmer, J. Widagdo, K. M. Taylor, S. Bontempo, M. Howard, A. C. Wong, G. D. Housley, A. J. Hannan, P. W. Gunning, E. C. Hardeman.

994W   HoxA9 regulatory SNP is associated with clubfoot and alters gene expression. T. Powell, K. S. Weymouth, S. Richards, C. V. Patel, S. H. Blanton, J. T. Hecht.

995W   Investigation of molecular basis of X-linked mandibulofacial dysostosis with cleft palate. N. Sobreira, A. Telegrafi, L. Cirulli, P. Pichurin, D. Avramopoulos, M. Gunay-Aygun, A. Hamosh, D. Valle.

996W   Increased need for medical intervention in children with 22q11.2 deletion (velocardiofacial) syndrome. E. King, K. Stanford, B. J. Leech, H. M. Saal, J. James, S. R. Callahan, S. Geraghty, I. Sageser, R. J. Hopkin.

997W   A complex cardiac abnormality associated with deletion of the NOTCH1 gene. D. Myles-Reid, L. Nield, P. Shannon, R. Teitelbaum, M. Thompson, D. Chitayat.

998W   R179H mutation in ACTA2 expanding the phenotype to include Prune-Belly sequence and skin manifestations. J. Richer, D. M. Milewicz, R. Gow, J. de Nanassy, G. Maharajh, E. Miller, L. Oppenheimer, M. O’Connor.

999W   Congenital diaphragmatic hernia syndromes and involvement of 1q41. J. Shieh, A. Slavotinek.

1000W   Five case reports with Opitz G/B.B.B syndrome: Two patients with chromosomal abnormalities; X chromosome duplication (47, XXY) and translocation 46XX t(3q;4q), in the Hospital Para El Niño Poblano. J. Aparicio, M. D. L. Hurtado, I. Marroquin, G. A. Rojas, p. Sanchez, S. Rodriguez, R. Zamudio.

1001W   MECP2 duplication (453 Kb) clinical manifestations in a four generation family. J. Bartley, P. Park.

1002W   Genetic medicine: The NIH Undiagnosed Diseases Program model. C. F. Boerkoel III, D. Adams, T. Markello, C. Toro, C. J. Tifft, W. A. Gahl.

1003W   Orbicularis oris muscle thickness and area in cleft lip with or without cleft palate families versus controls. C. A. Brandon, T. Parsons, J. Joseph, M. E. Cooper, R. DeSensi, S. M. Weinberg, K. Neiswanger, K. Schmidt, J. M. Resick, K. Bardi, M. L. Marazita.

1004W   CYP1B1 mutations in Spanish families with primary congenital glaucoma: identification of six novel mutations and association with early diagnosis. J. Escribano, M. P. Lopez-Garrido, L. Morales, J. M. Martinez-de-la-Casa, M. T. Garcia-Anton, J. Garcia-Feijoo.

1005W   De novo 5q14.3 deletion in a child with developmental delay, microcephaly, venous malformation and seizures. A. Guerin, R. Babul-Hirji, S. Al-Zaidy, E. Donner, M. Shago, D. Chitayat.

1006W   A longitudinal analysis of clinical features in patients labeled cerebral palsy and global developmental delay, define chronic complex disorder syndrome: An undefined clinical entity or genetic disorder? J. Kapalanga, Y. Said, D. Wong, A. Gandy, M. Moyo, N. Nwebube, A. Singh.

1007W   Consanguinity as a means to identify pathogenic recessive mutations. P. Makrythanasis, M. Nelis, M. Guipponi, F. Béna, S. Gimelli, S. Temtamy, A. Megarbane, M. Aglan, M. Zaki, S. Fokstuen, L. Gwanmesia, A. Masri, S. Psoni, S. Kitsiou, H. Frissyra, E. Kanavakis, N. Al-Allawi, N. Akarsu, S. AlHait, S. Al-Arrayed, I. Al Rashdi, H. Hamamy, S. E. Antonarakis.

1008W   Transient neonatal diabetes: Case report of a long term follow-up. M. C. Moreira, C. R. D. C. Quaio, I. Gomy, A. Ino, M. E. Ceccon, T. Della Manna, A. V. Morgante, D. R. Bertola, C. A. Kim.

1009W   Fetal akinesia in metatropic dysplasia: Combination between chondrodysplasia and neuropathy? S. Unger, E. Lausch, F. Stanzial, G. Gillessen-Kaesbach, C. Di Stefano, E. Bertini, C. Dionisi-Vici, B. Nilius, B. Zabel, A. Superti-Furga.

1010W   A novel SHH missense mutation causing variable phenotypes in familial holoprosencephaly. D. Wang, M. Huggins, P. Mohide, C. Li.

1011W   Clinical and molecular characteristics of Noonan syndrome among Arabs. D. M. AlJeaid, J. Y. Al-Aama.

1012W   Autoimmune diseases and multiple autoantibodies in a cohort of 43 molecularly proven RASopathy patients. D. R. Bertola, C. R. D. C. Quaio, J. F. Carvalho, C. A. A. Silva, C. Bueno, A. S. Brasil, A. C. Pereira, A. L. L. Jorge, A. C. Malaquias, C. A. Kim.

1013W   Atypical 7q11.23 deletion in a boy with the facies and behavioral phenotype of Williams syndrome but typical overall cognitive ability: Phenotype-genotype correlation. R. D. Clark, B. Haas, A. L. Reiss.

1014W   POLR1D and POLR1C sequencing in a series of 33 patients without TCOF1 mutations and study of their profile expression during human development. C. Collet, M. Vincent, S. Thomas, S. Marlin, E. Sanchez, A. Harroche, K. Dahan, T. Attie, C. Herlin, Y. Chabbi, G. Captier, C. Blanchet, A. Ermakov, M. Bigorre, M. Mondain, M. Willems, B. Doray, P. Sarda, F. Djouad, D. Genevičve.

1015W   A further case of Coffin-Siris syndrome with additional findings: Acanthosis nigricans and obesity. B. Durmaz, E. Karaca, O. Cogulu, F. Ozkinay.

1016W   Richieri-Costa-Pereira syndrome. T. M. Felix, I. G. Mazzucco, G. Carvalho, J. C. L. Leite, L. Z. Bonilha, M. V. Collares.

1017W   Clinical review of 21 patients with chromosome 22q11.2 deletion syndrome. J. Garcia-Sagredo, J. Lopez-Ribera, P. Cabello, E. Garcia-Galloway, C. Villalon, J. Cabrejas, M. Talavera, M. T. Ferro.

1018W   A seven years follow-up of a new case of Ehlers Danlos syndrome type VIIB: Major problems are represented by bilateral, extremely severe, hip dislocation. M. Giovannucci Uzielli, C. Giunta, G. Scarselli, N. Dayan, E. Lapi, L. Di Medio.

1019W   The Floating-Harbor syndrome: Report of the first case series in South America. I. Gomy, C. R. D. C. Quaio, D. R. Bertola, C. A. Kim.

1020W   Autosomal dominant natal teeth with selective tooth agenesis. J. Graham, V. Funari, O. Klein, K. Seidel, P. Kantaputra, K. Taylor.

1021W   Congenital neutropenia with retinopathy, a new phenotype without mental retardation caused by VPS13B mutations. L. Gueneau, L. Jego, P. Sarda, C. Hamel, B. Aral, E. Lopez, N. Gigot, M. C. Lavigne, A. Donzel, P. Callier, A. Masurel-Paulet, J. R. Teyssier, N. Droin, S. El Chehadeh, L. Faivre, C. Thauvin.

1022W   Novel GJA1 mutation in a patient with oculo-dento-digital dysplasia and evolving basal ganglia abnormalities. E. M. Honey, E. J. van Rensburg.

1023W   5q31.3 Microdeletion syndrome is a clinically discernible new syndrome characterized by severe neonatal hypotonia, feeding difficulties, respiratory distress, and severe developmental delay. K. Hosoki, T. Ohta, J. Natsume, S. Imai, A. Okumura, T. Matsui, N. Harada, F. Scaglia, C. A. Bacino, N. Niikawa, S. Saitoh.

1024W   A novel autosomal dominant Pierre-Robin microtia type I syndrome. A. Hunter, K. Boykott, N. Roy.

1025W   A de novo 10.6 Mb tandem duplication of 17q11.2-q12 in a 1-year-old boy: Expanding the phenotype. S. Jamal, R. Basran, T. Maher, Y. Zou, X. Huang, J. Milunsky.

1026W   Phenotypic features of the 14q deletion syndrome in balanced translocation carrier family members. N. J. B. Kapalanga, D. Wong, A. C. Gandy.

1027W   Aicardi Goutiere syndrome — First molecularly confirmed case in Malaysia. W. T. Keng, G. I. Rice, H. Gornall, Y. J. Crow, V. Ganesan, R. Ariffin.

1028W   A clinical description of an adult patient with Wolf-Hirschhorn syndrome caused by the unbalanced translocation t(4;8)(p16.1;p23.1). J. Liu, M. Thomas.

1029W   Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region. M. Michelson-Kerman, C. Vinkler, I. Nezer, M. Yanoov-Sharav, T. Lerman-Sagie, D. Lev.

1030W   Toriello-Carey syndrome: First Brazilian case with unusual manifestation phenotype. M. P. Migliavacca, T. A. Zanolla, N. L. M. Sobreira, A. B. A. Perez.

1031W   Polymorphism of MTHFR A1298C, a marker in northern Indian mothers with DS babies and its association with biochemical risk factors and CHD. P. K. Mohanty, S. Kapoor, A. P. Dubey, R. Saha, S. K. Pandey, S. K. Pollipali.

1032W   New mutations in Brazilian patients with overgrowth syndromes. D. Moretti-Ferreira, G. H. Vieira, C. E. F. Domingues, R. L. L. F. Lima.

1033W   Clinical and molecular study of a cohort of 28 patients with suspicion of Rothmund-Thomson, Baller-Gerold and Rapadilino syndrome referred for ReCQL4 analysis. J. Piard, M. Holder, C. Baumann, G. Baujat, L. Martorell, F. Boralevi, N. Philip, B. Aral, N. Gigot, P. Callier, M. Payet, C. Ragon, L. Van Maldergem, P. Vabres, L. Faivre, C. Thauvin-Robinet.

1034W   Variable features of dominantly inherited Cornelia deLange syndrome. M. E. Pierpont, B. Hall, R. Temme.

1035W   LEOPARD syndrome in Finland. M. Poyhonen, K. Avela, J. S. Moilanen, O. Saksela, S.-L. Sallinen, M.-L. Vaisanen, S. Kivirikko.

1036W   Orofacial phenotype of van der Woude and popliteal pterygium syndrome patients with IRF6 mutations. M. Quentric, A. Petraud, M. Legendre, M. Ghassibé, L. Desmyter, I. Jéru, S. Marlain, M. Gonzales, S. Amselem, M. P. Vazquez, A. Berdal, M. Vikkula, A. Picard.

1037W   Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. S. Raskin, F. Faucz, V. Sotomaior, A. F. Bonalumi, J. Rosenfeld, J. Souza.

Genetic Counseling and Clinical Testing


1038W   Hearing impairment data analysis in clients of genetic counseling network of State Welfare Organization in Iran. S. Akbaroghli, H. Masoudi Farid, P. Jamali, N. Sorkhkooh Azari, B. Azadeh, N. Jianabed, G. Mohammadian, M. Taghdiri, M. Borujerdi, F. Habibi, M. Mohammadi Sarband, J. Malbin, P. Nikui, H. Khodai, F. Sabbagh Kermani, Z. T. Zand, J. Rezazadeh Varaghchi, H. Yazdan, G. Fatemi, G. Karbasi, S. M. Rajabi, R. Torabi, H. Dehghan, A. Moshtaghi, M. Kasiri, S. F. Hejazi, M. Sohrabjaidari, N. Janmohammadi, F. Ebadi, S. H. Mussavi.

1039W   DFNB49 is an important cause of non-syndromic deafness in Czech Gypsy patients but not in the general Czech population. D. Brožková, J. Laštůvková, H. Štěpánková, M. Krůtová, M. Trková, P. Seeman.

1040W   Recurrent children with TRPS I due to germline or low grade somatic mosaicism in healthy mothers. H. J. Luedecke, S. Gkalympoudis, M. Heitmann, M. Krajewska-Walasek.

1041W   GENECA: A French regional network for multidisciplinary management of patients at risk of inherited cancers. C. M. Maugard, D. Lejri, M. Voltzenlogel, A.-L. Wetzel, L. Gilleron, L. Haar, M. Langeois, H. Nehme-Schuster, J. M. Limacher, J.-P. Fricker, C. Cordier.

1042W   BRCA1/2 testing, genetic counseling referral, risk knowledge, and use of guidelines among U.S. primary care clinicians, 2010. C. Bellcross, K. Kolor, M. J. Khoury.

1043W   Germline PTEN and SDHx mutations and KLLN epimutation and thyroid cancer incidence and phenotypic characteristics in prospective series of individuals with Cowden and Cowden-like syndromes. J. Ngeow, J. Mester, L. Rybicki, Y. Ni, K. Milas, C. Eng.

1044W   MTHFR gene polymorphisms and their association with isolated cleft lip palate in Mexican children. A. Gonzalez-del Angel, B. Estandía Ortega, J. Velázquez Aragón, M. A. Alcántara Ortigoza, M. Reyna Fabian, C. Sabas Cruz Fuentes, M. Diaz Morales, S. Villagómez Martínez.

1045W   Homozygosity mapping to guide clinical molecular testing in consanguineous families: A pilot study. R. E. Lamont, I. Gjata, C. Beaulieu, R. Casey, R. Ferrier, R. B. Lowry, D. R. McLeod, A. M. Innes, F. Bernier, J. Parboosingh.

1046W   Australian relatives' experiences of communicating genetic information following the unexpected death of a family member due to an inherited cardiac condition. J. Hodgson, L. Gallacher, N. Morgan, I. Macciocca, S. Metcalfe.

1047W   Haplotype frequencies linked to S hemoglobin in patients with sickle cell anemia and sickle trait in the Atlantic and the Pacific Colombian coast. G. Barreto Rodriguez, M. Lizarralde Iragorri, C. Fong Reales.

1048W   Development of characterized genomic DNA reference material panels for clinical chromosomal microarrays. L. Kalman, H. Kearney, L. Toji, D. Berlin, C. Carmack, L. Conlin, J. Gastier-Foster, N. Gerry, L. Jennings, V. Jobanputra, C. Lee, J. Leonard, B. Levy, C. Shaw, R. Shippy, S. B. Fulmer-Smentek, S. South, N. Spinner, J. Stavropoulos, Z. Tang, H. VanSteenhouse, D. Wolff, A. Yesupriya, S. Kulkarni.

1049W   The 22q11.2 duplication syndrome: A genetic counseling conundrum! D. M. McDonald-McGinn, S. Saitta, A. Kohut, A. Bailey, M. D. Ha, B. Emanuel, E. H. Zackai.

1050W   If it’s free, do people necessarily agree? Uptake of parental testing after abnormal array comparative genomic hybridization in our clinical genetics experience. N. Shur, J. Bernabe, J. T. Machan, K. Hovanes, E. Morrow, D. Abuelo.

1051W   Resolving the genetics of a disease phenocopy by linkage mapping and high-throughput-sequencing. J. L. Blouin, M. Failly, A. Letourneau, A. Munoz, C. Iseli, D. Robyr, C. D. Delozier, S. E. Antonarakis, S. Ala-Mello, L. Bartoloni.

1052W   Not knowing the odds is terrible: Patient and provider experiences with the uncertainties of prenatal microarray testing. D. Soucier, B. Bernhardt for NICHD Prenatal Microarray Study Group.

1053W   Web-based expert review system of clinical genetics website. H. Numabe, S. Muzuno, N. Sakai, N. Okamoto, T. Ikeda, Y. Fukushima.

1054W   Frequency estimation of low-level somatic mosaicism for pathogenic CNVs. I. M. Campbell, S. C. S. Nagamani, A. Erez, C. Robberecht, A. Ester, M. Bartnik, B. Wisniowiecka-Kowalnik, K. Derwinska, E. Bocian, K. S. Plunkett, A. N. Pursley, C. A. Shaw, S.-H. L. Kang, W. Bi, S. R. Lalani, C. A. Bacino, A. Patel, J. A. Veltman, L. E. Vissers, J. R. Vermeesch, S. W. Cheung, L. R. Lupski, P. Stankiewicz.

1055W   Trends in genetic counseling in India: Experience from one genetic center. S. Bijarnia, R. D. Puri, U. Kotecha, S. Kohli, M. Jain, J. Verma, R. Saxena, M. Lall, I. C. Verma.

1056W   Characteristics of healthy participants in a whole genome sequencing study. M. K. Cho, C. Caleshu, L. Hudgins, H. Greely, S. J. Lee, K. E. Ormond.

1057W   Evaluation of a molecular genetic testing strategy for autosomal dominant retinitis pigmentosa and its translation into the genetic counselling process. M. A. Day, J. E. Sutherland, E. Heon.

1058W   A primary care model for assessing patient disease risk based on family health history: Description and preliminary analysis. V. C. Henrich, E. Hauser, L. Orlando, C. Christianson, A. Buchanan, K. P. Powell, A. Agbaje, G. Ginsburg, Genomedical Connection.

1059W   A comparison study of the practices of genetic counsellors between France and Canada. E. Le Boette, M. Edmont, M.-A. Voelckel, J.-L. Mandel, H. Sobol, C. Cordier.

1060W   Personal genotyping in genetics faculty members considering personal whole genome sequencing. K. E. Ormond, L. Hudgins, C. Caleshu, H. Greely, S. J. Lee, M. K. Cho.

1061W   An integrated program for care of children with agenesis of the corpus callosum encompassing caregivers, clinical services and research. K. Pope, M. Spencer-Smith, D. Amor, M. Delatycki, P. Lockhart, A. McIlroy, G. McGillivray, V. Anderson, R. Leventer.

1062W   Utility of fetal autopsy evaluation on genetic counseling in developing countries. R. D. Puri, U. K. Kotecha, S. B. Bijarnia, M. L. Lall, P. S. Savior, R. S. Saxena, I. C. V. Verma.

1063W   U.K. recognition of international genetic counsellor training and registration: A continuing dialogue. B. Stayner, J. Walford-Moore, A. Middleton on behalf of Genetic Counsellor Registration Board.

1064W   Introducing Lexigene: An online French-English lexicon of terms related to genetic counseling. R. Vanneste, G. Sillon, J. Hathaway, M. Cloutier.

1065W   The first year: Impressions from clinicians and families following clinical utilization of whole genome sequencing. R. Veith, S. Dugan, A. White, A. Laedtke, J. Kopesky, D. Bick, D. Dimmock.

1066W   MutaDATABASE, a standardized, centralized, open access database of variants leading to human genetic disease. P. Willems.

1067W   Application of next-generation sequencing in molecular diagnosis of mitochondrial disorders. R. Bai, M. Saifi, S. Suchy, J. Higgs, M. Knight, S. Warren, J. Compton, F. Gibellini, S. Buchholz, S. Benhamed, B. Boggs, C. Chinault, Y. Shevchenko, G. Richard, S. Bale, J. Compton.

1068W   Novel MLL2 mutations identified in Kabuki syndrome. R. K. Basran, A. Milunsky, T. A. Maher, J. M. Milunsky.

Molecular Basis of Mendelian Disorders


1069W   Autosomal dominant congenital nonprogressive spinocerebellar ataxia is associated with a missense mutation in the ITPR1 gene. L. Huang, R. Zou, M. Carter, D. E. Bulman, K. M. Boycott.

1070W   Discovery of a probable gene mutation causing mental retardation, microsomia, and signs of skeletal dysplasia in an Arab family with a previously undelineated autosomal recessive disorder. M. Osman, Y. Al-Saraj, G. Billedo, S. Zaineddin, H. El-Shanti, J. Alami.

1071W   Exome sequencing for noncoding regions: Identification of the first branch point deletion in Aarskog-Scott syndrome. M. H. Breuning, Y. Sun, E. Aten, R. al Momani, T. Messemaker, J. F. J. Laros, S. M. Maas, J. T. den Dunnen.

1072W   Regulation of PLP1 alternative splicing by secondary structure. G. Hobson, J. Taube, K. Sperle, B. Cavan, J. Garbern.

1073W   Splice site variants in the Wilson disease gene, ATP7B, that affect splicing of an exon 18 minigene. G. Macintyre, A. M. E. Wilson, D. W. Cox.

1074W   Discovery of mRNA splicing mutations in the human gene mutation database by SNP-based information theory prediction confirmed by expression microarray analysis. E. J. Mucaki, X. Sun, P. K. Rogan.

1075W   Novel MFN2 mutations in two familial cases with Charcot-Marie-Tooth type 2A. M. Muglia, A. Patitucci, D. Messina, A. Magariello, G. Nicoletti, R. Mazzei, F. L. Conforti, C. Ungaro, L. Citrigno, I. Mikerezi, W. Sproviero, A. Gambardella.

1076W   Deep intronic mutations flanking the alternatively spliced NF1 exon 31/23a cause missplicing preferentially including exon 31/23a in the transcript. J. Xie, T. Callens, J. Williams, L. Messiaen.

1077W   The genetic etiology of otosclerosis in the genetic isolate of Newfoundland, Canada. N. Abdelfatah, A. Griffin, K. Hodgkinson, T. Batten, S. Moore, J. Houston, C. Negrijn, T. Young.

1078W   Homozygous chromosomal microdeletion of NEUROG1 in a consangineous family: A new human gene for the development of cranial sensory ganglia and inner ear neurons causing syndromic hearing loss, Mondini malformation, and gulp and mouth motor disorder. O. Bartsch, J. Schröder, A. K. Läβig, A. Keilmann, W. Müller-Forell, D. Galetzka.

1079W   AQP4 and syndromic Menière’s disease. C. A. Campbell, N. C. Meyer, L. T. TeGrootenhuis, C. C. Della Santina, J. P. Carey, L. B. Minor, M. R. Hansen, B. J. Gantz, R. J. H. Smith.

1080W   Rationalization of molecular diagnosis of Usher syndrome in the Spanish population. T. Jaijo, E. Aller, G. Garcia-Garcia, M. J. Aparisi, J. M. Millan.

1081W   Assessment of GJB6, GJB4, and GJC3 genes for double heterozygosity with GJB2 heterozygots in autosomal recessive non-syndromic hearing impairment patients. D. Kooshavar, M. R. Noori Daloii, M. Hashemzadeh Chaleshtori.

1082W   Examination of gene expression patterns associated with PMP22-related auditory dysfunction. M. J. Kovach, T. A. Carver, W. R. Bolus.

1083W   Pitfalls in the etiological diagnosis of sensorineural hearing loss in Brazil. P. Z. Ramos, A. M. Castilho, V. C. S. de Moraes, E. L. Sartorato.

1084W   Forward genetics to identify novel neuromuscular genes in zebrafish. V. Gupta, S. R. Gundry, M. Discenza, A. T. Chen, Y. Zhou, L. I. Zon, A. H. Beggs.

1085W   A multiplex kindred with severe Buruli ulcer displaying Mendelian inheritance. Q. B. Vincent, A. Chauty, M. F. Ardant, H. Dokponou, J. Gnossike, H. Koussemou, L. Marsollier, J. L. Casanova, L. Abel, A. Alcais.

1086W   Target gene selection and dual genome analysis by next-generation sequencing for mitochondrial disorders. W. Zhang, H. Cui, F. Li, l. Wong.

1087W   FKBP10-null mutation in recessive type XI OI leads to abnormal collagen trafficking to Golgi. A. M. Barnes, W. A. Cabral, E. Makareeva, M. Weis, W. Chang, L. Felley, D. Eyre, S. Leikin, C. Trujillo, J. C. Marini.

1088W   Leri Weill syndrome caused by a duplication of cis-regulatory DNA elements downstream of SHOX gene. D. Coviello, L. Capone, M. Baffico, R. Bertorelli, L. Iughetti, B. Predieri, S. Vanelli, B. Stasiowska, M. Baldi, A. Forabosco.

1089W   Musculo-contractural Ehlers-Danlos syndrome (EDS type VIB): A new EDS-subtype caused by a defect in proteoglycan biosynthesis. A. De Paepe, P. Vlummens, D. Syx, S. Nampoothiri, S. Symoens, F. Malfait.

1090W   Novel canine chondrodysplasia mutation. K. Kyöstilä, H. Lohi.

1091W   Identification by exome sequencing of truncating mutations in the last exon of NOTCH2 as a cause of Hajdu-Cheney syndrome, a rare disorder with osteoporosis. C. Le Caignec, B. Isidor, P. Lindenbaum, O. Pichon, S. Bezieau, C. Dina, S. Jacquemont, D. Martin-Coignard, C. Thauvin-Robinet, M. Le Merrer, J. L. Mandel, A. David, L. Faivre, V. Cormier-Daire, R. Redon.

1092W   Mutations in the TGFβ binding protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. C. Le Goff, C. Mahaut, L. W. Wang, S. Allali, A. Abhyankar, S. Jensen, L. Zylberberg, G. Collod-Beroud, C. Bole-Feysot, P. Nischtke, P. Handford, J. L. Casanova, C. Boileau, S. S. Apte, A. Munnich, V. Cormier-Daire, Clinical Consortium of Geophysic and Acromicric Dysplasias.

1093W   Sc65 is a novel regulator of bone homeostasis. R. Morello, B. Hendrix, K. Gruenwald, P. Castagnola, D. Gaddy, L. J. Suva.

1094W   Whole-exome sequencing in Fine-Lubinsky syndrome reveals a promising candidate gene. D. R. Murdock, P. Campeau, J. Lu, M.-C. Gingras, D. Scott, R. Gibbs, B. Lee.

1095W   The ratio of urinary pyridinoline to deoxypyridinoline crosslinks — A promising diagnostic tool in osteogenesis imperfecta. M. Rohrbach, M. Kraenzlin, D. Eyre, I. Kennerknecht, C. Netzer, O. Semler, F. Rutsch, B. Steinmann, M. R. Baumgartner, C. Giunta.

1096W   Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. M. Samuels, J. Majewski, J. Schwartzentruber, A. Caqueret, L. Patry, J. P. Fryns, K. Boycott, L.-G. Ste-Marie, F. McKiernan, I. Marik, H. Van Esch, J. Michaud.

1097W   A next-generation sequencing approach to diagnosis of a family's skeletal abnormalities and retinitis pigmentosa. K. Schrader, A. Heravi-Moussavi, P. Waters, J. Senz, J. Whelan, G. Ha, P. Eydoux, T. Nielsen, B. Gallagher, A. Oloumi, N. Boyd, B. A. Fernandez, T. L. Young, S. J. M. Jones, M. Hirst, S. P. Shah, M. A. Marra, J. Green, D. G. Huntsman.

1098W   Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. S. W. Tompson, E. Ali Faqeih, L. Ala-Kokko, J. T. Hecht, R. Miki, T. Funari, V. A. Funari, L. Nevarez, D. Krakow, D. H. Cohn.

1099W   Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. X. Wu, M. Gu, L. Huang, X. Liu, H. Zhang, X. Ding, J. Xu, B. Cui, L. Wang, S. Lu, X. Chen, H. Zhang, W. Huang, W. Yuan, J. Yang, Q. Gu, J. Fei, Z. Chen, Z. Yuan, Z. Wang.

1100W   Mutations in the NSUN2 gene cause autosomal recessive intellectual disability in Middle Eastern populations with elevated frequency. L. Abbasi Moheb, S. Mertel, L. Nouri Vahid, K. Kahrizi, A. Tzschach, D. Wieczorek, M. Garshasbi, S. Cirak, S. S. Abedini, H. Najmabadi, H. H. Ropers, S. Sigrist, A. W. Kuss.

1101W   Identification and mapping of locus on the long arm of chromosome 4 that is associated with mental retardation and optic atrophy in a Qatari family with undelineated autosomal receive disease. Y. Al-Saraj, M. Osman, Y. Bejaoui, G. Billedo, E. Abuazab, H. El-Shanti, J. Alami.

1102W   The syndrome of mental retardation, epilepsy and cerebellar atrophy maps to chromosome 20p11.21-q11.23. F. Bayrakli, M. Canpolat, H. Per, S. Kumandas, E. Pinarbasi, I. Guney.

1103W   Genetic basis of a new form of hereditary hyperekplexia. J. Capo-chichi, L. Patry, M. E. Samuels, J. L. Michaud.

1104W   VCP gene analysis in sporadic ALS patients. F. L. Conforti, W. Sproviero, I. L. Simone, G. Logroscino, P. Valentino, M. R. Monsurrň, V. La Bella, C. Rodolico, F. Bono, A. Patitucci, A. Magariello, L. Citrigno, M. Muglia, A. Chiň, A. Gambardella, R. Mazzei.

1105W   Spatacsin gene mutations are a frequent cause of recessive spastic paraplegia but are rare in juvenile recessive forms of amyotrophic lateral sclerosis. C. Gellera, B. Castellotti, V. Pensato, R. Fancellu, E. Salsano, D. Pareyson, D. Di Bella, C. Mariotti, F. Taroni.

1106W   Identification of ANK3 as a novel gene for autosomal recessive intellectual disability. Z. Iqbal, A. Razzaq, M. Shahzad, K. Neveling, L. Vissers, M. Yasir Zahoor, L. Tomas Roca, C. Gilissen, A. T. Vulto-van Silfhout, A. Schenck, J. A. Veltman, A. P. M. de Brouwer, S. Riazuddin, H. van Bokhoven.

1107W   Massively parallel sequence analysis reveals the causative gene of an autosomal recessive neurodegenerative disorder, posterior column ataxia with retinitis pigmentosa. H. Ishiura, Y. Fukuda, J. Mitsui, Y. Nakahara, B. Ahsan, Y. Takahashi, Y. Ichikawa, J. Goto, T. Sakai, S. Tsuji.

1108W   Novel disease mechanisms underlie ATP7A-related distal motor neuropathy. S. Kaler, L. Yi, A. Donsante, P. Steinbach, J. Hicks.

1109W   Why X? Super X-ome sequencing for monogenic neuronal disease classes: Intellectual disability and chemosensory impairment. D. Lancet, D. Oz-Levi, T. Olender, E. Ben-Asher, I. Keydar, M. Khen, E. Ruzzo, K. Pelak, H. Resnik-Wolf, B. Ben-Zeev, Y. Anikster, D. Goldstein, E. Pras.

1110W   Mechanism of recurrent expansion of a 700kb deletion on chromosome 14q causing dopa-responsive dystonia and ptosis. K. Lohmann, H. Tönnies, S. B. Bressman, I. Nagel, A. Rakovic, A. Haake, J. I. M. Subero, K. Wiegers, F. Hinrichs, Y. Hellenbroich, D. Raymond, L. J. Ozelius, E. Schwinger, R. Siebert, R. Saunders-Pullman, C. Klein.

1111W   A patient affected by CADASIL carrying a novel mutation on the exon 7 of the NOTCH3 gene. R. Mazzei, C. Ungaro, M. Muglia, F. Ruscica, W. Sproviero, A. Patitucci, L. Citrigno, A. Magariello, A. Gambardella, F. L. Conforti.

1112W   iPS cells to model Rett spectrum disorders. I. Meloni, M. Amenduni, R. De Filippis, A. Y. Cheung, F. Ariani, F. Mari, M. A. Mencarelli, Y. Hayek, J. Ellis, A. Renieri.

1113W   A novel SACS mutation in a family with atypical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay. S. Miyatake, N. Miyake, K. Ogata, M. Kawai, N. Matsumoto.

1114W   Aniridia and autism in a Greek male child with a de novo heterozygous PAX6 (Arg317X) mutation: Is there a linked etiopathogenesis? A. Psychogios.

1115W   The genetic basis of SPG36: A novel disease mechanism. R. Schüle, N. Schlipf, F. Schiele, C. Beetz, A. Dürr, S. Klimpe, A. Lossos, S. Otto, F. Santorelli, L. Schöls, P. Bauer.

1116W   Targeted resequencing for gene discovery in Joubert syndrome. P. Taylor, H. Lee, S. F. Nelson.

1117W   A novel STXBP1 mutation in genetic focal seizure with neonatal onset. M. Vatta, M. B. Tennison, A. S. Aylsworth, C. M. Turcott, M. P. Guerra, C. Eng, Y. Yang.

1118W   A Nijmegen breakage syndrome family with four affected members and three carriers having malignancies. F. Ozkinay, E. Karaca, H. Onay, N. Karaca, G. Aksu, B. Erturk, N. Kutukculer.

1119W   Study of undelineated autosomal recessive disorder among Arabs. J. Alami, Y. Al-Saraj, Y. Bejaoui, M. Osman, E. Abuazab, M. El-Dow, H. El-Shanti.

1120W   Familial Alzheimer's disease with amyloid precursor protein D678N mutation: A case report. V. Andreoli, F. Trecroci, A. La Russa, M. Liguori, P. Spadafora, G. Di Palma, A. Gambardella, R. Cittadella.

1121W   Mutations in RAB40AL cause Martin-Probst syndrome, an X-linked disorder characterized by sensorineural hearing loss, cognitive impairment, short stature, and craniofacial dysmorphisms. J. K. Bedoyan, V. Schaibley, W. Peng, Y. Bai, K. Mondal, A. C. Shetty, M. Durham, A. Dhiraaj, J. M. Skidmore, J. B. Kaplan, C. Skinner, R. E. Stevenson, C. E. Schwartz, A. Antonellis, M. E. Zwick, J. D. Cavalcoli, J. Li, D. M. Martin.

1122W   Exome sequencing reveals new gene for autosomal recessive congenital ichthyosis in a consanguineous German family. K. M. Eckl, A. Önal-Akan, R. Casper, H. Thiele, I. Hausser, M. L. Preil, J. Altmüller, G. Nürnberg, F. Stock, P. Nürnberg, H. Traupe, H. C. Hennies.

1123W   The MYH9 and APOL1 genes are independently associated with sickle cell disease nephropathy. M. E. Garrett, E. C. Okocha, K. Soldano, L. M. De Castro, J. C. Jonassaint, E. P. Orringer, J. R. Eckman, M. J. Telen, A. E. Ashley-Koch.

1124W   Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. R. D. Machado, M. T. Nasim, T. Ogo, M. Ahmed, R. Randall, H. M. Chowdury, K. M. Snape, T. Y. Bradshaw, L. Southgate, G. J. Lee, I. Jackson, G. M. Lord, J. S. R. Gibbs, M. R. Wilkins, K. Ohta-Ogo, K. Nakamura, B. Girerd, F. Coulet, F. Soubrier, M. Humbert, N. W. Morrell, R. C. Trembath.

1125W   Examination of Fuchs endothelial corneal dystrophy in African Americans. M. A. Minear, J. Rimmler, S. Watson, E. Balajonda, Y.-J. Li, G. K. Klintworth, N. A. Afshari, S. G. Gregory.

1126W   A novel mutation in PRPF31 linked with autosomal dominant retinitis pigmentosa in a large Indian family. S. Saini, V. Vanita, D. Singh, J. R. Singh, P. N. Robinson.

1127W   Familial amyloid polyneuropathy (ATTRV30M): What can we learn from the study of families of this AD disorder in which the proband had no affected parent at the time of diagnosis? A. Sousa, C. Lemos, A. Martins-da Silva, R. Magalhăes, J. Neto, I. Alonso, J. Pinto Basto, J. Sequeiros, T. Coelho.

1128W   Identification of an interaction between LIX1, a feline SMA candidate gene, and DACHSOUS1. E. N. Wakeling, J. C. Fyfe.

1129W   NPHP4 variants are associated with congenital heart malformations and heterotaxy. V. French, I. van de Laar, M. Wessels, C. Rohe, J. Roos-Hesselink, I. Frohn-Mulder, L.-A. Severijnen, B. de Graaf, G. Wang, R. Schot, G. Breedveld, E. Mientjes, M. van Tienhoven, E. Jadot, Z. Jiang, A. Verkerk, S. Swagemakers, H. Venselaar, Z. Rahimi, H. Najmabadi, H. Meijers-Heijboer, E. de Graaff, W. Helbing, R. Willemsen, K. Devriendt, J. Belmont, B. Oostra, J. Amack, A. Bertoli-Avella.

1130W   Exome sequencing of distantly affected relatives effectively and efficiently identifies causative genes for familial thoracic aortic aneurysms and dissections. D. C. Guo, E. S. Regalado, R. Zhao, C. E. Kibler, G. Chang, J. Shendure, M. K. Rieder, D. A. Nickerson, D. M. Milewicz.

1131W   Novel insights regarding the mechanism and treatment of stress-induced cardiomyopathy in Marfan syndrome. R. Rouf, E. Takimoto, D. Bedja, N. Koitabashi, D. P. Judge, D. A. Kass, H. C. Dietz.

1132W   The profession as a cause for mutation identification. H. Yonath, H. Reznik-Wolf, L. Zeler, E. Pras, M. Frydman.

1133W   Acid fatty metabolism: A new therapeutic target for epidermolysis bullosa simplex. M. Bchetnia, M. Tremblay, G. Leclerc, A. Dupéré, J. Powell, C. McCuaig, C. Morin, V. Legendre-Guillemin, C. Laprise.

1134W   Combined malonic aciduria and methylmalonic aciduria: Exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classical phenotype. L. Dempsey Nunez, A. Alfares, K. Al-Thihli, J. Mitchell, S. Melançon, N. Anastasio, J. Majewski, K. C. H. Ha, D. S. Rosenblatt, N. Braverman.

1135W   Mitochondrial mistargeting causes autosomal dominant renal Fanconi syndrome. E. Klootwijk, M. Reichold, A. Helip-Wooley, H. Stanescu, J. Reinders, D. Bockenhauer, W. A. Gahl, R. Warth, R. Kleta.

1136W   Novel recurrent CFTR mutation in Chilean cystic fibrosis patients. G. Lay-Son, M. Vasquez, F. Vial, M. L. Boza, I. Contreras, J. Lozano, D. Zenteno, F. Bello, G. M. Repetto.

1137W   Contribution of GH and GHRHR mutations to isolated growth hormone deficiency: Identification and functional characterization of new variants. S. Amselem, M. L. Sobrier, F. Dastot-Le Moal, N. Collot, S. Rose, A. Soleyan, P. Duquesnoy, B. Copin, M. Legendre.

1138W   A novel spontaneous autosomal recessive mutation/deletion that causes a multifarious alopecia-like phenotype in mouse. H. Beauchemin, C. Polychronakos.

1139W   Exome sequencing strategy in a family with congenital fiber-type disproportion and insulin resistance reveals an unexpected excess of non-synonymous variants. T. Esposito, D. Formicola, S. Magliocca, M. Simonetti, O. Farina, F. Cipullo, S. Sampaolo, F. Gianfrancesco, G. Di Iorio.

1140W   The novel M1304R mutation in the von Willebrand factor gene (VWF) causes defective VWF multimerization and storage and results in type 2 von Willebrand disease. J. Hinckley, J. Chen, R. Montgomery, S. Haberichter, R. Wong, J. Lopez, J. Di Paola.

1141W   CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. J. Kohlhase, N. von Velsen, P. Burfeind, M. Steckel, J. Maenz, A. Buchholz, W. Borozdin, S. Pauli.

1142W   Mutations in MAP3K1 cause 46, XY DSDs by shifting the balance in downstream signaling pathways. J. Loke, A. Pearlman, S. Blais, T. Neubert, H. Ostrer.

1143W   Identification of a novel missense mutation in exon 4 of the human factor VIII gene associated with severe hemophilia A patient. H. Onsori, M. A. Hosseinpour Feizi, Sh. Mintasser Kouhsari, A. A. Hosseinpour Feizi.

1144W   Histone acetylation deficits in lymphoblastoid cell lines from Rubinstein-Taybi syndrome patients. C. Gervasini, J. P. Lopez-Atalaya, S. Spena, F. Mottadelli, M. Piccione, A. Selicorni, A. Barco, L. Larizza.

1145W   Identification of a new gene involved in IHH and ataxia by positional cloning of a patient with a balanced translocation t(3;12)(p13;p13). H. Kim, R. Ullmann, H. Ropers, V. Kalscheuer, L. Layman.

1146W   Microarray-based copy number analysis can identify genomic disruptions of PHEX causing X-linked hypophosphatemic rickets. S. Mumm, D. Wenkert, M. Huskey, V. A. Wollberg, M. P. Whyte.

1147W   Approach to the genetic dissection of primary ciliary dyskinesia in the Qatari population. A. S. Al-Dosari, Y. A. Alsarraj, I. A. Janahi, A. Saadoon, S. F. Mohammed, J. Alami, H. I. Elshanti.

1148W   The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking. R. Bachmann-Gagescu, I. G. Phelps, G. Stearns, B. A. Link, S. Brockerhoff, C. B. Moens, D. Doherty.

1149W   Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with severe renal disease. G. Billingsley, C. Deveault, E. Héon.

1150W   A critical review of the human ciliopathy-related literature reveals a need for revision of diagnostic criteria. C. Deveault, G. Billingsley, E. Héon.

1151W   Genetic and phenotypic characterization of an ovine large animal model of the MKS/JBTS/NPHP ciliopathy, Meckel-Gruber syndrome. M. R. Eccles, B. Lett, C. Stayner, A. Wiles, L. Slobbe, K. Parker, A. C. Johnstone, R. J. Walker, A. C. Poole, J. McEwan, D. Markie.

1152W   NEK1 is not responsible for all short rib polydactyly, Majewski type or for Beemer Langer cases. J. El Hokayem, C. Huber, G. Baujat, C. Baumann, D. Calvacanti, F. Collins, A. L. Delezoide, M. Gonzales, D. Johnson, M. Le Merrer, A. Levy-Mozziconacci, D. Martin-Coignard, G. Mortier, M. J. Perez, L. Olivier-Faivre, J. Roume, G. Scarano, C. Thauvin-Robinet, A. Munnich, V. Cormier-Daire.

1153W   Strain-specific differences in perinatal viability support genetic modifiers in Bardet-Biedl syndrome. R. L. Gottlieb, D. Nishimura, C. Searby, K. Bugge, V. C. Sheffield.

1154W   PKD1 hypomorphic alleles act as major modulators of disease severity in autosomal dominant polycystic kidney disease. K. Hopp, S. Rossetti, C. J. Ward, C. M. Heyer, J. L. Sundsbak, V. E. Torres, P. C. Harris.

1155W   Next-generation exon re-sequencing of 86 ciliopathy candidate genes in 480 individuals using a DNA pooling strategy. E. A. Otto, J. L. Innis, F. Hildebrandt.

1156W   Primary ciliary dyskinesia caused by homozygous mutation in DNAL1 encoding dynein light chain 1. R. Parvari, M. Mazor, S. Alkrinawi, V. Chlifa-Caspi, E. Manor, V. C. Sheffield, M. Aviram.

1157W   Mutations of NEK1 cause short rib-polydactyly syndrome type Majewski with defective ciliogenesis. C. T. Thiel, K. Kessler, A. Giessl, A. Dimmler, S. A. Shalev, S. von der Haar, M. Zenker, D. Zahnleiter, H. Stoess, E. Beinder, R. Abou Jamra, A. B. Ekici, N. Schroeder-Kress, T. Aigner, T. Kirchner, A. Reis, J. Brandstaetter, A. Rauch.

1158W   KIF7 (Costal2) mutations cause fetal hydrolethalus and acrocallosal syndromes. S. Thomas, A. Putoux, K. L. M. Coene, E. E. Davis, Y. Alanay, G. Ogur, A. Munnich, V. Cormier-Daire, R. Hennekam, E. Colin, N. A. Akarsu, S. Lyonnet, F. Encha-Razavi, J. P. Siffroi, M. Winey, N. Katsanis, M. Gonzales, P. L. Beales, M. Vekemans, T. Attié-Bitach.

Cancer Genetics


1159W   The MDM2/MDMX complex is required for control of p53 activity in vivo. L. Huang, Z. Yan, X. D. Liao, Y. Li, J. Yang, Z. G. Wang, Y. Zuo, H. Kawai, M. Shadfan, S. Ganapathy, Z. M. Yuan.

1160W   Analysis of splice variants of the FANCC gene and their impact in FANC-BRCA DNA repair pathway. S. Bélanger, C. Joly Beauparlant, C. S. Pedneault, N. Litim, O. Ouellette, Y. Labrie, F. Durocher, INHERIT.

1161W   Analysis of FANCA sequence and splicing variants in French Canadian women with high risk of breast and ovarian cancer. F. Durocher, Y. Labrie, S. Desjardins, N. Litim, G. Ouellette, INHERIT BRCAs.

1162W   Functional implications of the FancLdel4 splice variant on DNA repair in the FANC-BRCA pathway. C. S. Pedneault, S. Belanger, G. Ouellette, K. Plourde, N. Litim, Y. Labrie, F. Durocher, INHERIT.

1163W   Molecular signatures of tissue inhibitor of metalloproteinases-1 overexpression in breast cancer cells. K. C. Belling, C. A. Bjerre, L. Vinther, L. Fogh, K. Do, A. S. Rasmussen, U. Lademann, W. Jun, L. Bolund, N. Brünner, J. Stenvang, R. Gupta.

1164W   Detection of viral sequences in cancer transcriptomes using high-throughput sequence analysis. I. Borozan, S. Wilson, A. M. K. Brown, P. Laflamme, S. Gnaneshan, R. Rottapel, J. D. McPherson, V. Ferretti.

1165W   Whole genome sequencing of tumor-normal pairs from 5 African Americans with late stage or metastatic prostate cancer. N. J. Cardin, R. Kazma, J. A. Mefford, T. J. Hoffmann, A. Levin, D. Chitale, B. Rybicki, J. S. Witte.

1166W   Amplified haplotype calling in next-generation tumor sequence data. N. Dewal, Y. Hu, M. Freedman, T. LaFramboise, I. Pe'er.

1167W   GST an emerging threat to north Indian population for head and neck squamous cell carcinoma: A meta analysis of case control studies. S. Gupta, A. Srivastava, M. C. Pant, B. Mittal, P. Seth.

1168W   Meta-analysis of genome-wide mRNA expression profiles with computational analysis identifies miR-x and miR-y associated with recurrence of colorectal cancer. E. Hsi, T. Kuo, I. Yang, P. Tsai, S. Juo.

1169W   Identification and differentiation between driver and passenger mutation applying clustering algorithm on next-gen sequencing data. S. Karmakar, A. Ghosh, A. Basu.

1170W   Dealing with sample aneuploidy and mosaicsm using the ASCAT algorithm on different SNP array platforms. R. Keshavan, S. Verma, S. Shams.

1171W   The European Genome-phenome Archive. I. Lappalainen, J. Almeida-King, V. Kumanduri, P. Marin-Garcia, P. Flicek.

1172W   Genome-wide association study of classical Hodgkin lymphoma and EBV status-defined subgroups. J. McKay, U. Urayama, R. Jarrett, H. Hjalgrim, K. Ekström Smedby, M. Melbye, A. Diepstra, A. van den Berg, M. Lathrop, P. Brennan, IARC HL GWAS.

1173W   Visualizing and exploring genomic alterations in the Cancer Genome Workbench. C. Yan, R. Finney, M. Edmonson, N. Cu, Y. Hu, D. Meerzaman, K. Buetow.

1174W   A chemical genetics screen identifies a novel drug that targets steroid biogenesis and receptor signaling leading to growth inhibition of pediatric malignant astrocytoma cell lines. N. Ajeawung, D. Poirier, D. Kamnasaran.

1175W   Germline deletion in the INI1/SMARCB1 gene in a child with ependymoma and in his father with multiple schwannomatosis. J. G. Pappas, E. Reich, J. C. Allen, J. Wisoff, I. Mikolaenko, L. M. Messiaen.

1176W   Association of estrogen receptor-β gene polymorphisms with breast cancer risk in Iran. S. Abbasi.

1177W   Survival analysis for genetic variants associated with colorectal cancer susceptibility. A. Abulí, X. Bessa, R. Jover, C. Ruiz-Ponte, C. Fernández-Rozadilla, J. Muńoz, A. Carracedo, A. Castells, M. Andreu, S. Castellvi-Bel, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

1178W   Detection of BRCA1 and BRCA2 mutations by high-resolution melting curve analysis in breast cancer patients from Thailand and Pakistan. J. Ahmad, S. Daud, S. Sangrajrang, F. Le Calvez-Kelm, N. Kakar, C. Voegele, O. Sinilnikova, S. Tavtigian, F. Lesueur.

1179W   PTEN exon four and five mutation analysis of Iranian sporadic breast cancer patients. M. Akouchekian, S. Henati, M. Akbari Azirani.

1180W   BRCA2:E3002K, a new recurring mutation in the founder French Canadian population of Quebec. S. L. Arcand, S. Côté, S. Nolet, P. Ghadirian, W. D. Foulkes, M. D. Tischkowitz, A.-M. Mes-Masson, D. Provencher, P. N. Tonin.

1181W   Activation of p53 as a possible therapeutic strategy for treatment of cancer. A. Avan, M. Maftouh, A. Avan, R. Mirhafez, H. Fiuji.

1182W   Genetic sequence variants and head and neck cancer outcome: A genome-wide association study. A. K. Azad, I. Bairati, L. Cheng, D. Waggott, E. Samson, D. Cheng, M. Mirshams, S. Savas, J. Waldron, C. Wang, D. Goldstein, P. Boutros, G. Liu, F. Meyer, W. Xu.

1183W   Somatic mutations in esophageal squamous cell carcinoma revealed by exome sequencing. J. Bai, Q. Wang, W. Chen, H. Cai, C. Zeng.

1184W   Identification of men with a genetic predisposition to prostate cancer: Targeted screening of BRCA1/2 mutation carriers and controls: The IMPACT study. E. K. Bancroft, E. Castro, E. C. Page, R. A. Eeles, IMPACT Study Steering Committee and Collaborators.

1185W   Somatic mutations in CCKBR alter receptor activity and promote tumor progression. T. Barber, M. Lajiness, I. Wulur, B. Feng, M. Swearingen, M. Uhlik, K. Kinzler, V. Velculescu, T. Sjoblom, S. Markowitz, S. Powell, B. Vogelstein, M. Willard.

1186W   Landscape of somatic structural alterations in chronic lymphocytic leukemia detected by whole genome sequencing. L. Bassaganyas, J. C. Tubio, G. Escaramis, C. Tornador, S. Bea, X. S. Puente, D. Gonzalez-Knowles, R. Guigo, I. Gut, C. Lopez-Otin, E. Campo, X. Estivill on behalf of CLL Genome Project Consortium.

1187W   Detection of somatic mutations in hepatocellular carcinoma: A prerequiste for individualized immonotherapy. P. Bauer, C. Schroeder, S. Junker, M. Loeffler, S. Stevanovic, H. G. Rammensee, S. Nadalin, A. Koenigsrainer, C. Hann von Weyhern, O. Riess.

1188W   Identification of ethnic specific gene expression differences in breast cancer and normal breast tissue. L. L. Baumbach-Reardon, C. Gomez, J. Yan, T. Halsey, K. Ellison, M. E. Ahearn, M. Jorda, M. Peagram.

1189W   Arsenic-related genomic and epigenomic alterations in lung squamous cell carcinomas. D. Becker-Santos, V. Martinez, E. Vucic, S. Lam, W. Lam.

1190W   Caprin1 is frequently overexpressed in human lymphomas. S. Berker Karauzum, Z. Cetin, B. Akkaya, A. Timuragaoglu, I. H. Ozbudak, H. Bagci.

1191W   Rapid identification of cancer mutations by high-throughput sequencing on the MiSeq system. J. Betley, G. Smith, K. Hall, MiSeq Program Team.

1192W   Post-genome-wide association studies in colorectal cancer. M. Biancolella, C. Yan, G. Mendoza-Fandino, M. J. Hitchler, G. A. Coetzee, G. Casey.

1193W   Developing breast cancer among men and possibility of exposure to endocrine- disrupting chemicals in Iran: A case report. F. Biramijamal, A. Hossein-Nezhad, H. Jalaikhoo, F. Ramezani, S. S. Mirgheydari, S. Klahroodi, P. Hemmati.

1194W   Genome-wide SNP array analyses of benign, low malignant potential and low grade serous epithelial ovarian tumors identify chromosomal anomalies, including a novel fusion gene. A. H. Birch, S. L. Arcand, K. K. Oros, K. Rahimi, A. K. Watters, D. Provencher, C. M. Greenwood, A. M. Mes-Masson, P. N. Tonin.

1195W   Analysis of expression profile of VEGF pro- and antiangiogenic isoforms in head and neck cancer squamous cell carcinoma. P. M. Biselli-Chicote, G. H. Marucci, R. Castro, J. V. Maniglia, D. S. Neto, E. C. Pavarino, E. M. Goloni-Bertollo.

1196W   Tylosis with oesophageal cancer segregates with RHBDF2 mutations leading to dysregulation of downstream EGF and EphrinB3 signalling. D. C. Blaydon, S. L. Etheridge, J. M. Risk, H.-C. Hennies, H. P. Stevens, J. K. Field, A. Ellis, I. M. Leigh, A. P. South, D. P. Kelsell.

1197W   Identification of fusion transcripts in ovarian cancer by next-generation RNA sequencing. M. Bonin, J. Hoffmann, H. Neubauer, M. Walter, A. Staebler, F. Wagner, O. Riess, D. Wallwiener, H. G. Rammensee, T. Fehm.

1198W   BRCAPRO versus Manchester Scoring System — Experience of Genetic Health Queensland, Australia. M. J. Boon, R. D. Susman, J. Bjorkman.

1199W   What management for the asymptomatic men carriers of BRCA1 and BRCA2 mutation? Inquest to the French oncogenetics centres. I. Brachot-Simeonova, G. Morin, C. Gillaux, B. Demeer, F. Amram, J. Gondry, M. Mathieu, R. Fauvet.

1200W   Single molecule targeted resequencing to individualize cancer therapy. A. M. K. Brown, K. Ng, L. Timms, R. De Borja, T. Zhang, S. Kamel-Reid, J. Dancey, L. L. Siu, B. Tran, P. Shaw, S. Ghal, V. Ferretti, S. Watt, N. Onetto, T. Hudson, J. D. McPherson.

1201W   The MLH1 c.1-93 G>A SNP is associated with MLH1 promoter methylation and molecular features of serrated pathway colorectal cancer. D. D. Buchanan, M. D. Walsh, M. Clendenning, R. J. Walters, B. Nagler, S. Pearson, D. McKeone, E. Pavluk, C. Rosty, J. L. Hopper, M. A. Jenkins, D. R. English, J. P. Young.

1202W   Improved tumor profiling using next-generation sequencing approaches. D. Burgess, I. Tomlinson, M. Middleton, B. Hassan, A. Schuh, D. Green, T. Albert, X. Zhang, J. Taylor.

1203W   Genome-wide DNA methylation pattern analysis of childhood leukemia. S. Busche, C. Richer, B. Ge, J. Healy, T. Kwan, S. H. Chen, D. Sinnett, T. Pastinen.

1204W   High resolution melting analysis of BRAF V600E mutation in sporadic colon cancer. T. Cacev, S. Bulat, S. Kapitanovic.

1205W   Evidence for a strong genetic contribution to lethal prostate cancer. L. Cannon-Albright, C. Teerlink, N. Agarwal, R. Stephenson.

1206W   Quantitative analysis of the expression of anti- and pro- angiogenic isoforms of VEGF in breast cancer by qPCR. R. Castro, P. M. Biselli-Chicote, V. R. Regiani, D. S. Neto, N. A. B. Junior, J. L. E. Francisco, J. A. Thome, E. C. Pavarino, D. A. P. C. Zuccari, E. M. Goloni-Bertollo.

1207W   Identification of MMTV/HMTV retrovirus in breast tumor samples from Mexican females. A. Cedro-Tanda, A. Córdova-Solis, A. Pedroza-Torres, M. Rives-Güendulain, M. Moreno-Arroyo, J. Tórres-López, F. Salamanca-Gómez, D. Arenas-Aranda, N. García-Hernández, X. Rivera-Gonzalez.

1208W   Mutations in the Sonic hedgehog pathway in congenital acute lymphoblastic leukemia cells. V. Chang, K. Sakamoto, S. Nelson.

1209W   ITPR3 gene haplotype is associated with cervical cancer risk. T. Chang, Y. Yang, Y. Lee, T. Chen, S. Chang, W. Lin.

1210W   Viability screens with pooled shRNA libraries identify novel and synthetically lethal anti-cancer targets. A. Chenchik, D. Tedesco, K. Bonneau, M. Makhanov, C. G. Frangou.

1211W   A rare intronic CHEK2 sequence variant in a child with ependymoma and glioblastoma alters substrate recognition in the NMD pathway. H. Cheung, D. Wheeler, G. Tomlinson, L. Strong, R. Gibbs, S. Plon.

1212W   A comprehensive resequence-analysis of 166kb KITLG region in familial testicular germ cell tumors. C. Chung, M. Yeager, J. Boland, M. Greene, S. Chanock, C. Kratz.

1213W   Evaluation of RAD51C as a new breast cancer susceptibility gene in the Belgian/Dutch population. K. Claes, M. Van Bockstal, S. De Brouwer, N. Swietek, K. Storm, J. Van den Ende, S. Willocx, E. B. Gomez-Garcia, B. Blaumeiser, K. Leunen, C. J. Van Asperen, J. Wijnen, E. Legius, G. Michils, G. Matthijs, M. J. Blok, A. De Paepe, B. Poppe, K. De Leeneer.

1214W   Mutation deep within an intron of MSH2 causes Lynch syndrome. M. Clendenning, D. D. Buchanan, M. D. Walsh, B. Nagler, C. Rosty, B. Thompson, A. B. Spurdle, J. L. Hopper, M. A. Jenkins, J. P. Young.

1215W   Association of polymorphisms in antioxidant genes with chronic myeloid leukemia. E. Cordova, E. Crespo-Solis, M. Ayala-Sanchez, C. Yerena de Vega, M. Lopez-Hernandez, C. Sanchez-Guerrero, I. Chavez-Perez, A. Martínez-Tovar, A. Aguayo, M. Morales-Marin, A. Martinez-Hernandez, L. Orozco.

1216W   BRCA1 and BRCA2 diagnosis: Feasibility of multiplex amplification coupled to next-generation sequencing. F. Coulet, F. Pires, M. Eyries, C. Colas, F. Soubrier.

1217W   Association between CCRN4L gene and non-small cell lung cancer in Brazilian patients. P. G. Couto, L. Bastos-Rodrigues, A. Vilhena, N. F. Amaral, L. De Marco.

1218W   Cancer risk-associated variants disrupt FoxA1 genomic activity. R. Cowper, X. Zhang, J. Wright, M. Cole, J. Eeckhoute, J. H. Moore, M. Lupien.

1219W   Genetic polymorphisms in NAT1, NAT2, GSTM1, GSTP1 and GSTT1 and susceptibility for colorectal cancer in a Filipino population. E. Cutiongco, V. Bańez, M. Roxas, C. Padilla, C. Ngelangel, R. Santos-Cortez, C. Silao, F. Rocamora, O. Florendo, C. Sison, A. Roxas, F. Doble, E. Nuqui for Philippine Cancer Genetics Study Group.

1220W   5-Fluorouracil induce the expression of TLR4 on HCT116 colorectal cancer cell line expressing different variants of TLR4. H. Davoodi, S. R. Hashemi, S. Heng Fong.

1221W   The role of genetic ancestry in breast cancer predisposition and tumor presentation in Puerto Rican Hispanic. J. Dutil, L. Fejerman, E. Ziv, S. Huntsman, N. Arroyo, J. Matta, J. Gonzalez-Bosquet.

1222W   Identification and validation of genetic variants that influence breast cancer prognosis. D. Eccles, I. Politopoulos, W. Tapper, S. Gerty, J. J. Liu, F. Couch, D. Easton, N. Rahman, S. Ennis, A. Collins, POSH Study Investigators.

1223W   Overview of the clinical ELLIPSE (elucidating loci involved in prostate cancer susceptibility) consortium. R. Eeles, C. Goh, Z. Kote-Jarai, P. Kraft, D. Easton, B. Henderson, F. Schumacher.

1224W   Genome-wide association study identifies germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. E. Ellinghaus, M. Stanulla, G. Richter, D. Ellinghaus, G. te Kronnie, G. Cario, G. Cazzaniga, M. Horstmann, R. Panzer Gruemayer, H. Cave, J. Trka, O. Cinek, A. Teigler-Schlegel, A. ElSharawy, R. Haesler, A. Nebel, B. Meissner, T. Bartram, F. Lescai, C. Franceschi, M. Giordan, P. Nuernberg, B. Heinzow, M. Zimmermann, S. Schreiber, M. Schrappe, A. Franke.

1225W   ELF3 is a putative oncogene frequently gained and hypomethylated in the adenocarcinoma subtype of non-small cell lung cancer. K. S. Enfield, R. Chari, D. Becker-Santos, S. Lam, W. L. Lam.

1226W   The Lymphoid Cancer Families Study — A resource for identification of genetic factors contributing to lymphoma, lymphoid leukemia, and myeloma: Phase 1 recruitment. A. English, A. Brooks-Wilson, J. Connors.

1227W   Initiative in profiling Filipino colorectal cancer patients based on clinical and molecular genetics criteria. M. Enriquez, M. Nuylan, J. Pilante, L. Cabral, E. Cortes, E. Bondoc, F. Natividad, SLMC Colorectal Cancer Study Group.

1228W   Tdp1 and PARP-1 are synthetic lethal targets for rhabdomyosarcoma. H. K. Fam, M. Chowdhury, S. Bajaj, N. Osborne, K. Choi, C. Walton, G. Sun, M. Bond, T. Triche, C. Pallen, C. F. Boerkoel.

1229W   CD40 expression in gastric adenocarcinoma. W. Fan, X. Kang, G. Ren.

1230W   Mutation analysis exones 7,8&9 of PTEN gene in Iranian colorectal cancer. M. Firoozi, L. Alidoust Masouleh, M. Ghaffarpoor, Z. Hajebrahimi, M. Arabian, L. Najafi, N. Salim, K. Bidoki, M. Houshmand.

1231W   Whole-exome sequencing of 19 hereditary prostate cancer families with aggressive or early-onset disease. L. M. FitzGerald, A. Kumar, L. McIntosh, E. A. Ostrander, E. W. Pugh, H. Ling, K. F. Doheny, J. Shendure, J. L. Stanford.

1232W   Pooled analysis of GWA studies for survival from clear cell ovarian cancer reveals association at RASGRF2, ANKS1B and KSR2. B. L. Fridley, R. A. Vierkant, Z. C. Fogarty, S. Armasu, Y. Tsai, H. Lin, H. Song, K. Bolton, J. Tyrer, S. J. Ramus, S. Johnatty, J. M. Cunningham, G. Chenevix-Trench, R. Sutphen, T. Moorman, J. M. Schildkraut, N. Wentzensen, S. Gayther, P. Pharoah, T. A. Sellers, E. L. Goode.

1233W   Comprehensive analysis of somatic mutations in twenty-seven liver cancers by whole genome sequencing. A. Fujimoto, T. Tsunoda, Y. Totoki, T. Abe, K. A. Boroevich, M. Nagasaki, M. Kubo, S. Miyano, N. Kamatani, Y. Nakamura, T. Shibata, H. Nakagawa.

1234W   Novel methods to integrate genotype and gene expression data reveal pathways genetically associated with ER breast cancer subtypes. T. Furey, Q. Xinog, M. Weiser, E. Hauser, C. Perou, S. Mukherjee.

1235W Unprogrammed presentation number

1236W   Genetic and functional evidence of the presence of a tumor suppressor gene in 3p12-cen region in a model of epithelial ovarian cancer. K. Gambaro, P. M. Wojnarowicz, M. de Ladurantaye, K. Leclerc Désaulniers, V. Barrčs, J.-S. Ripeau, S. L. Arcand, J. Lavoie, D. M. Provencher, A.-M. Mes-Masson, M. Chevrette, P. N. Tonin.

1237W   Evolutionary dynamics of blood cancer revealed by deep sequencing. H. Gao, C. Wang, C. Bustamante, M. Mindrinos, D. Miklos, R. Davis, W. Xiao.

1238W   Association of polymorphic variants of vascular endothelial growth factor gene in relation to risk and androgen therapy response in prostate cancer patients of North India. G. P. George, R. D. Mittal.

1239W   Molecular characterization of pediatric high grade astrocytomas reveals mTOR pathway dysregulation in pediatric anaplastic astrocytomas. N. Gerges, T. Haque, A. Nantel, N. Jabado.

1240W   PIK3CA , BRAF,KRAS&PTEN mutational alteration and association with clinicopathological features in Iranian colorectal cancer patients. M. Ghaffarpour, S. Sobhani, M. Firoozi, E. Mohammadi Pargoo, S. Pirmoradi, Z. Mostakhdemin Hosseini, F. Kamali, F. Fereidooni, M. Houshmand, Sobhani Firoozi.

1241W   Fine-scale mapping of the 11q13 breast cancer susceptibility locus. M. Ghoussaini, S. Ahmed, K. Michailidou, K. Gregory, E. Dicks, K. Driver, M. Maranian, C. Turnbull, N. Rahman, P. D. Pharoah, D. F. Easton, A. M. Dunning.

1242W   SLC39A2 and FSIP1 polymorphisms as potential modifiers of arsenic-related bladder cancer. D. Gilbert-Diamond, A. Andrew, H. Nelson, Z. Li, T. Punshon, A. Schned, C. Marsit, S. Morris, J. H. Moore, A. Tyler, M. Guerinot, K. Kelsey, M. Karagas.

1243W   Cancer genes are differentially expressed with age in normal tissues. D. Glass, A. Vińuela, L. Parts, D. Knowles, A. Nica, J. Nisbet, A. Barrett, M. Sekowska, M. Travers, S. Potter, E. Grundberg, K. Small, A. Hedman, J. Tzenova Bell, G. Surdulescu, F. O. Nestle, P. di Meglio, R. Durbin, K. Ahmadi, J. Winn, D. Hochhauser, V. Bataille, P. Deloukas, M. I. McCarthy, T. D. Spector, E. T. Dermitzakis, MuTHER Consortium.

1244W   Clinical implications of a prostate cancer risk SNP profile in an active surveillance cohort. C. Goh, E. Saunders, N. Mahmud, M. Tymrakiewicz, D. Leongamornlert, T. Dadaev, E. Castro, D. Olmos, K. Thomas, R. Woode-Amissah, M. Guy, K. Govindasami, L. O'Brien, A. Hall, R. Wilkinson, A. A. Al Olama, D. Easton, Z. Kote-Jarai, C. Parker, R. Eeles.

1245W   Familial aggregation of acute myeloid leukemia and myelodysplastic syndromes in young, but not in adult patients. L. R. Goldin, S. Y. Kristinsson, X. Liang, A. R. Derolf, O. Landgren, M. Bjorkholm.

1246W   Genetic variations in BRAF, CDKN2A, NRAS, and PTEN and the risk of melanoma in melanoma-prone families. A. M. Goldstein, R. M. Pfeiffer, D. Maeder, L. Burdett, M. Yeager, S. J. Chanock, M. A. Tucker, X. R. Yang.

1247W   CYP3A4*1B polymorphism is not associated with prostate cancer in Mexican population. L. Gomez-Flores-Ramos, E. Vaquez-Valls, B. M. Torres-Mendoza, M. P. Gallegos-Arreola.

1248W   Confronting the problem of genetic heterogeneity in cancer tissues: Investigating the role of the androgen receptor gene in breast cancer ontogeny and treatment. B. Gottlieb, C. Alvarado, C. Wang, B. Gharizadeh, F. Babrzadeh, B. Richards, M. Basik, L. K. Beitel, M. Trifiro.

1249W   Replication of genome-wide discovered breast cancer risk loci in the Cypriot population. A. Hadjisavvas, M. Loizidou, I. Neophytou, K. Kyriacou.

1250W   Association of 8q24.21 locus with the risk of colorectal cancer: A systematic review and meta-analysis. B. S. Haerian, M. S. Haerian.



1251W   Analysis of the 16p11.2 region in congenital primary hypothyroidism and atypical septo-optic dysplasia. M. Dasouki, G. Lushington, K. Hovanes.

1252W   Cytogenetic and phenotypic findings in Tunisian children with Fanconi anemia. A. Amouri, F. Talmoudi, S. Abdelhak, O. Kilani, I. Chemkhi, H. Guermani, S. Hentati, N. Abidli, O. Messaoud, M. Ben Rekaya, W. Ayed, Tunisian Fanconi Anemia Study Group.

1253W   Intrachromosomal events and presence of complexities at the breakpoints are common features in MECP2 duplication rearrangements. C. M. B. Carvalho, M. Ramocki, D. Pehlivan, S. W. Cheung, L. M. Franco, M. Shinawi, J. W. Belmont, H. Y. Zoghbi, P. J. Hastings, J. R. Lupski.

1254W   Significance of small CNVs detected below the clinical cytogenetic laboratory threshold using Affymetrix 2.7M SNP array. Y. Qiao, C. Tyson, M. Hrynchak, E. Lopez-Rangel, J. Hildebrand, S. Martell, C. Fawcett, K. Calli, J. Holden, S. Lewis, E. Rajcan-Separovic.

1255W   A genetic study to understand the enigma of holoprosencephaly. M. I. K. Shehab, M. Zaki, H. Bassiouny, H. Kayed, M. Eid.

1256W   Interstitial deletion of chromosome band 2p21 with eye anomalies. G. Lefort, J. Puechberty, A. Schneider, M. Tournaire, M. Girard, P. Sarda, P. Blanchet, L. Pinson, D. Genevieve, S. Taviaux, E. Haquet, F. Pellestor, C. Coubes.

1257W   CDH9 deletion in a patient with profound intellectual disability and autism spectrum disorder. C. Soler-Alfonso, C. P. Schaaf, V. R. Sutton, J. Wiszniewska, S. H. Lee Kang.

1258W   Nanoscopic analysis of DNA segregation and chromatin accessibility during metaphase. W. A. Khan, R. A. Chisholm, S. M. Taddayon, A. Subasinghe, J. Samarabandu, L. J. Johnston, P. R. Norton, P. K. Rogan, J. H. M. Knoll.

1259W   A short stature girl with a complex chromosomes X and Y translocation: FISH and array-CGH studies. V. Catalŕ, K. Torabi, E. Masip, T. Escabias, A. Serés-Santamaria, E. Cuatrecasas.

1260W   X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. X. Zhang, H. Zhu, D. Shang, M. Sun, S. Choi, P. Patel, T. Jing.

1261W   Apparent monosomy 21- revision of the diagnosis case report. K. Adamová, M. Godava, M. Holzerová, M. Jarošová, V. Koudeláková, J. Šantavý.

1262W   Spectrum of chromosome abnormalities in spontaneous abortions: A chromosome CGH study of consecutive products of conceptions. L. Apel-Sarid, K. Schlade-Bartusiak, B. Lomax, P. Eydoux.

1263W   Micronuclei in bone marrow cells of mice exposed to chloroquine, in vivo. I. Aranha.

1264W   44,X,t(4;12)(q12;q13),der(13;14)(q10;q10): An unusual case in a girl with Turner syndrome and two diferent translocations. G. Arteaga Ontiveros, C. Uria Gomez, R. Garcia Cavazos.

1265W   Molecular and clinical characterizations of patients with tetrasomy and pentasomy 15q11q13. L. Bao, J. Yang, Y. Yang, Y. Huang, H. Li.

1266W   Microarray characterization of a partial trisomy 1q23-qter in a premature liveborn male with multiple congenital anomalies. K. Button, X. Li, J. Kobori.

1267W   X chromosome structural variants in patients with intellectual impairment and developmental delay: Summary of 2200 cases. T.-J. Chen, Y. Wang, M. Li, M. Phelan.

1268W   A fugitive occupational hazard related to diamond workers detected by cytogenetic alterations. S. Chettiar, J. Dattani, D. Jhala.

1269W   IsoUPD as a mechanism of fetal rescue detected by oligo-SNP array. N. Christacos, S. Schonberg, Z. Dai, D. Boles, J. Kelly, M. L. Solvak, K. Burks, T. Simanivanh, P. Mowrey.

1270W   Molecular cytogenetic prenatal diagnosis of a fetus with a mosaic supernumerary neocentromeric derivative chromosome 13. K. Chun, M. Hryshko, D. Konkin, S. Bal, D. Bernier, M. Tomiuk, S. Burnett, P. Frosk, B. N. Chodirker, A. J. Dawson.

1271W   Intragenic and sub-megabase deletions detected on whole genome screens in patients with developmental anomalies reveal loci potentially linked to novel disorders. J. Compton, L. Schmidt, D. M. Riethmaier, A. Fuller, B. Boggs, G. Richard, J. M. Meck, S. Aradhya.

1272W   Conventional and molecular cytogenetic characterization of a complex rearrangement involving 9p in an infant with craniofacial dysmorphism and cardiac anomalies. D. L. Di Bartolo, M. El-Naggar, R. Owen, T. Sahoo, F. Gilbert, V. Pulijaal, S. Mathew.

1273W   Submicroscopic genomic alterations investigated by array-CGH in Finnish and Brazilian patients with Müllerian aplasia. E. L. Freitas, M. Sandbacka, H. Laivuori, M. Halttunen, P. A. Otto, K. Aittomäki, C. Rosenberg.

1274W   Cytogenetic studies in primary amenorrhea cases. E. Ghadirkhomi, H. Khani, S. Jafarzadeh.

1275W   Duplication of chromosome 12 due to familial balanced robertsonian translocation case report. S. S. H. Hammad, S. I. H. Helal, N. A. Abdelmeguid, A. K. K. Kamel.

1276W   Co-occurrence of 22q12.1-12.3 deletion encompassing the neurofibromatosis type 2 locus in conjunction with 16p13.11 deletion in an infant with multiple congenital anomalies. A. M. Jay, S. Ebrahim, D. Stockton, V. Misra, R. Awwad, M. Hankerd, A. N. Mohamed.

1277W   MTHFR gene polymorphism in mothers having Down syndrome babies. A. Kaur, AD. Kaur.

1278W   Cytogenetic screening for female infertility: A Tunisian report. O. Kilani, W. Hammami, M. Ouni, W. Ayed, A. Fadhlaoui, M. Mefteh, F. Zhioua, S. Hentati, N. Abidli, S. Abdelhak, A. Amouri.

1279W   Validation studies of a disease-oriented whole-genome scanning as a diagnostic test for genetic and structural variations. T. Kubota, S. Sakazume, T. Nagai, M. Kamiyama, K. Ichikawa, H. Sato, S. Saito.

1280W   Pericentric inversion of Y chromosome in an infertile man reported as a normal variant. E. E. Kurt, O. Ozer, E. O. Ote, H. B. Zeyneloglu, F. I. Sahin.

1281W   Monosomy 3p25.3 and trisomy 1q42.13 in a boy with multiple congenital anomalies, profound growth and developmental restrictions and early demise. C. Li, V. Mahajan, J. Wang, B. Paes.

1282W   A Down syndrome patient with a de novo recombinant chromosome 21. G. Luleci, Z. Cetin, S. Yakut, E. Mihci, A. E. Manguoglu, S. Berker Karauzum, I. Keser.

1283W   Intrachromosomal arm duplication-deletion rearrangements. J. Meck, S. Warren, V. Nelson, L. Schmidt, L. Matyakhina, S. Aradhya.

1284W   Cytogenomic characterization of a dysmorphic patient with congenital multiple anomalies presenting a normal G-banding karyotype. V. F. A. Meloni, F. B. Piazzon, M. F. F. Soares, S. S. Takeno, D. M. Christofolini, L. M. Kulikowski, D. Brunoni, M. I. Melaragno.

1285W   Isodicentric 15q: Report of two Colombian cases. P. Paez, J. Acosta.

1286W   Ameliorative potential of melatonin and curcumin on fluoride and arsenic induced genotoxicity in human blood cultures. H. H. Pant, M. V. Rao.

1287W   The importance of metaphase FISH analysis in parental follow-up of microarray CNVs. P. Papenhausen, J. Tepperberg, R. Burnside, I. Gadi, V. Jaswaney, J. Smith, R. Potluri, E. Keitges, H. Risheg, S. Schwartz.

Metabolic Disorders


1288W   15 years experience :Egyptian metabolic lab. E. M. Fateen, A. Gouda, M. Mahmoud.

1289W   Phenylketonuria Scientific Review Conference: State of the science and future research needs. M. A. Parisi, T. K. Urv, R. R. Howell, K. M. Camp, P. M. Coates, H. D. Hyatt-Knorr, L. S. Nerurkar, J. H. Ferguson, S. C. Groft.

1290W   Clinical features of L-2-hydroxyglutaric aciduria and mutations of the L2HGDH gene in 4 Arab kindreds. M. Ul Haque, M. Al-Sayed, E. Faqeih, M. Jamil, M. Amoudi, N. Kaya, H. Abalkhail, A. Al Abdullatif, M. Rashed, M. Al-Owain, M. A. Chishti, I. Peltekova, S. H. E. Zaidi.

1291W   TIDE-BC: Implementation of an evidence-based protocol to identify treatable metabolic disorders causing intellectual disability. C. van Karnebeek, S. Stockler.

1292W   Five maple syrup urine disease case reports in a 16-year period of time at the Hospital para el Nino Poblano, Mexico. H. Velazquez, J. Aparicio, M. L. Hurtado, I. Marroquin, A. G. Rojas, P. Concha, F. Gutierrez, R. Herrera, E. Huitzil.

1293W   Hypertrophy of the clava, a new MRI sign in patients with PLA2G6 mutations. A. Al Maawali, G. Yoon, W. Halliday, J. T. R. Clarke, A. Feigenbaum, B. Banwell, D. Chitayat, S. Blaser.

1294W   Unraveling the leukodystrophies: Clinical, biochemical and molecular studies of sixty Brazilian patients with genetic white matter disorders. C. Lourenco, G. N. Simăo, A. C. Santos, C. A. R. Funayama, C. Sobreira, W. Marques, Jr.

1295W   Identification of a novel cause of autosomal dominant, adult-onset distal myopathy. M. C. Malicdan, C. F. Boerkoel, Y. Huang, J. Kwan, C. Groden, W. A. Gahl, C. Toro.

1296W   Mucopolysaccharidosis: Otorhinolaringological and audiological evaluation and treatment. J. C. Neto, L. S. Ikari, J. C. Bertoncello, M. G. Andrade, S. M. Marone, B. B. Taguchi, J. A. Francisco.

1297W   Gene expression aberrations in brains of CLN3 deficient mice suggest possible pathways in juvenile Batten disease. N. Dolzhanskaya, M. Velinov.

1298W   Association between a new 3216-3217 delGA mutation in AGL gene and common haplotype in Tunisian population: Evidence for a founder effect. M. Gribaa, A. Mili, I. Ben Charfeddine, O. Mamai, L. Adala, T. Ben Lazreg, A. Amara, J. Bouguila, D. H'mida, K. Limem, A. Saad.

1299W   Characterization of biomarkers during investigative therapy of hydroxy-propyl-beta-cyclodextrin in Niemann-Pick type C disease. D. W. Killilea, J. Suh, N. Mattsson, H. Zetterberg, E. Portelius, K. Blennow, Y. H. Hung, A. I. Bush, C. A. Hastings.

1300W   Abnormal metabolomic profiles in pregnancies complicated by small-for-gestational-age. M. Shinawi, D. Dietzen, A. Odibo, A. Gronowski, K. Moley.

1301W   Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 uncharacterized mutations in the human galactose-1 phosphate uridylyltransferase gene. M. Tang, A. Facchiano, R. Rachamadugu, F. Calderon, R. Mao, L. Milanesi, A. Marabotti, K. Lai.

1302W   Transcobalamin deficiency: A treatable metabolic cause of severe pancytopenia and recurrent infections. Y. J. Trakadis, T. Rupar, S. Melancon, A. Alfares, B. Schrewe, D. Watkins, D. S. Rosenblatt, N. Braverman.

1303W   Additive effect of variants in TNFRSF11A and TNFRSF11B genes in the etiopathogenesis of Paget’s disease of bone. F. Gianfrancesco, G. Morello, D. Rendina, T. Esposito, D. Merlotti, M. Di Stefano, S. Gallone, R. Nuti, P. Strazzullo, G. Isaia, L. Gennari.

1304W   New cellular models for MPS IVA and LINCL lysosomal storage disorders using patient specific induced pluripotent stem cells. A. Swistowski, M. Richards, M. Vellard.

1305W   First clues of a possible inflammation process in MPS IVA (Morquio): Keratan sulfate-induced macrophage activation. Y. Zhu, M. Vellard.

1306W   Genome-wide expression profiling in the Sjögren-Larsson syndrome. J.-B. Roullet, S. Impey, Q. Yang, R. D. Steiner, W. Rizzo.

1307W   Genetics variants implicated in COPII-mediated vesicle formation in chylomicron retention disease. R. Sanchez, E. Levy, C. Garofalo, D. Sinnett.

1308W   Evaluation of endothelial function by endothelial pulse amplitude testing in patients with mucopolysaccharidosis. S. Yano, K. Moseley.

1309W   Generation of a mouse model of the attenuated type I form of sialidosis. E. Bonten, G. Yogalingam, H. Hu, E. Gomero, A. d'Azzo.

1310W   Genes mediating natural variation in ER stress response. C. Y. Chow, M. F. Wolfner, A. G. Clark.

1311W   Plasmalogen deficiency in the PEX7 hypomorphic mouse, a model for rhizomelic chondrodysplasia punctata, causes neonatal lethality associated with abnormalities in late lung maturation. W. Cui, X. He, S. Jiralerspong, G. Nimmo, Y. Chen, J. Hacia, S. Steinberg, A. Moser, N. Braverman.

1312W   Missense mutations in the hemochromatosis (HFE) gene are genetic risk factors for secondary polyosteoarthritis. J. A. Di Battista, V. Martelli, P. Panopolis, J. Antoniou, M. Sebag, B. Gilfix, H. A. Menard.

1313W   Case report: Cerebrotendinous xanthomatosis (sterol 27-hydroxylase deficiency). F. Hadipour, Z. Hadipour, P. Sarkhail, M. Noruzinia, Y. Shafeghati.

1314W   Innate immunity and Toll-like receptors in lysinuric protein intolerance. J. Kurko, M. Tringham, L. Tanner, K. Näntö-Salonen, H. Niinikoski, M. Vähä-Mäkilä, O. Simell, J. Mykkänen.

1315W   Metabolic cutis laxa syndromes. E. Morava, T. Gardeitchik, M. Mohamed, D. Kouwenberg, D. Lefeber, U. Kornak, B. Heuvel, R. A. Wevers.

1316W   The expression pattern of genes involved in the vitamin B12 metabolic pathway during mouse embryogenesis. M. M. Moreno-Garcia, D. S. Rosenblatt, L. A. Jerome-Majewska.

1317W   Genetic analysis of galactosemia genes from Indian Galactosemia patients: Structural and functional implications of mutations. R. Singh, G. Kaur, B. R. Thapa, R. Prasad.

1318W   Effects of genetic variants and nutritional factors on metabolic diseases among Chinese populations. X. Lin.

1319W   Neonatal multiple sulfatase deficiency with tetralogy of Fallot: Homozygosity for a novel mutation. F. Al Jasmi, J. Hertecant, L. Al Gazali.

1320W   A 680 kb duplication at the FTO locus in a subject with extreme obesity. R. W. Davies, P. Lau, R. Dent, R. McPherson.

1321W   Association between BMI variants previously identified in adult populations in association with adolescent BMI in an ethnically-diverse cohort. M. Graff, K. E. North, K. L. Mohlke, L. A. Lange, E. M. Lange, C. S. Fox, L. A. Cupples, K. M. Harris, P. Gordon-Larsen.

1322W   Identification of novel mutations in HEXA gene in children affected with Tay-Sachs disease from India. M. Mistri, P. Tamhankar, S. Thomas, P. Kondurkar, S. Mehta, D. Sanghavi, J. Sheth.

1323W   Variants in or near PNPLA3, GCKR and PPP1R3B associate with ultrasound-defined steatosis in NHANES III. R. Hernaez, J. McLean, M. Lazo, F. L. Brancati, J. N. Hirschhorn, T. Nguyen, I. R. Kamel, S. Bonekamp, J. M. Clark, W. H. L. Kao, E. K. Speliotes.

1324W   A genome-wide association study reveals a quantitative trait locus of resistin on RETN that predicts metabolic outcomes. C. Chung, T. Lin, J. Chen, H. Leu, H. Ho, C. Ting, S. Sheu, W. Tsai, J. Chen, W. Pan.

1325W   Genetic risk assessment of type 2 diabetes-associated polymorphisms in African-Americans. J. Cooke, M. Ng, L. Lu, J. Li, S. An, J. Hester, J. Xu, B. Freedman, C. Langefeld, D. Bowden, N. Palmer.

1326W   MTHFR C677T and MTHFR A1298C polymorphisms in Mexican patients with gestational diabetes mellitus. I. P. Davalos, K. I. Lares-Castellanos, J. P. Mena-Ramírez, M. Salazar-Páramo, E. L. Chávez-González, I. M. Salazar-Dávalos, M. G. González-Mercado, M. A. Aceves-Aceves, F. Grover-Páez.

1327W   Genetic variation in UBE2E2 is associated with risk of type II diabetes in a European population. A. Dehghan, E. J. G. Sijbrands, A. Hofman, A. G. Uitterlinden, J. C. M. Witteman.

1328W   Three obesity-related loci are associated with insulin resistance independently of body mass index. T. Fall, J. Ärnlöv, C. Berne, E. Ingelsson.

1329W   Fine-scale genetic mapping reveals multiple signals of association in type 2 diabetes susceptibility loci. T. Ferreira, J. Yang, M. E. Goddard, A. Mahajan, T. M. Teslovich, N. W. Rayner, B. F. Voight, H. Khan, P. M. Visscher, M. I. McCarthy, A. P. Morris on behalf of DIAGRAM Consortium.

1330W   Mutational spectrum in a sample of Mexican patients with Hunter syndrome (MPSII): A preliminary report. M. Alcantara, A. González -del Ángel, L. Fernández-Hernández, B. García de Teresa B.

1331W   Screening for MPS VI in newborns on a high-incidence area of Northeast Brazil. F. Bender, T. Amorim, A. X. Acosta, F. Costa-Motta, A. Purificacao, M. G. Burin, R. Giugliani, S. Leistner-Segal.

1332W   Screening for MPS IV A in dried blood spots with a practical and reliable fluorimetric method. M. V. Camelier, G. E. S. Civallero, J. F. Mari, G. Marasca, T. A. Vieira, M. G. Burin, R. Giugliani.

1333W   Variation in heat-shock 70kDa protein 5 (HSPA5) is associated with longitudinal change in body fat. M. H. Black, R. M. Watanabe, M. Takayanagi, E. Trigo, J. Hartiala, H. Allayee, J. M. Lawrence, T. A. Buchanan, A. H. Xiang.

1334W   Novel associations for hypothyroidism include known autoimmune risk loci. B. T. Naughton, J. Y. Tung, A. K. Kiefer, D. A. Hinds, U. Francke, J. L. Mountain, C. B. Do, N. Eriksson.

1335W   Cognitive testing in patients with Fabry disease: a pilot study using a computerized, self-administered tool. D. Elstein, G. P. Doniger, E. Simon, G. Altarescu.

1336W   Evaluation of plasma globotriaosylsphingosine in patients with Anderson - Fabry disease in Brazil on enzyme replacement therapy with agalsidase alfa. W. Marques, Jr., O. M. Vieira Neto, M. Moysés Neto, I. M. Furquim, A. C. Paula, J. C. Coelho, C. M. Lourenco.

1337W   Enzymatic characterization of ALDH7A1 (antiquitin) missense mutations associated with pyridoxine-dependent epilepsy. M. B. Coulter-Mackie, Q. Lian, A. Li, E. Struys, S. Stockler, P. J. Waters.

1338W   Two cases of congenital disorders of glycosylation type II without detectable defect in conserved oligomeric Golgi subunits. D. Handa, R. Gilbert, B. Ng, M. Kozenko, M. Ssybowska, H. Freeze, C. Li.

Ethical, Legal, Social and Policy Issues in Genetics


1339W   Genetic counseling of donor gamete use: The problems presented by donor anonymity. J. L. Lauzon, J. R. Guichon, I. Mitchell.

1340W   Genetic diseases in the next edition of the International Classification of Diseases: Challenges and opportunities. S. Aymé, A. Olry, B. Bellet, A. Rath.

1341W   Digi-ID: From researcher/resource traceability to participant de-identification. M. Deschenes, A. Brookes, P. Burton, A. Cambon-Thomsen, J. Kaye, B. M. Knoppers, L. Mabile, M. Murtagh, A.-M. Tassé, G. Thorisson, S. Wallace, BRIF Working Group.

1342W   Human genome shares genes from lower plants and animals: Patenting genes is biologically undesired !! H. K. Goswami.

1343W   Indication of legal abortion in genetic disorders in Iran. M. Amirian, Z. Nafei.

1344W   Perspectives on African genomics commotion and advancement: The Nigerian case study. V. A. Counted.

1345W   Simons VIP Connect: The power of an online community for research recruitment. W. Faucett, A. Bibb, E. Hanson, D. Ledbetter, C. Martin, A. Paal, T. Page, E. Sherr, J. Spiro, J. Tjernagel, W. Chung, Simons Variation in Individuals Project.

1346W   Stakeholders’ perspectives of genetics in primary care: Will patients slip through the cracks? L. E. Forrest, B. J. McClaren, S. A. Metcalfe, J. M. Hodgson, J. Emery.

1347W   Knowledge and attitudes toward medical genetic services and the new genetic technologies in the Cuban population. B. Marcheco-Teruel, I. Rojas-Betancourt, E. Fuentes-Smith, N. González-Lucas, L. Martínez-Rey, A. Lantigua-Cruz, O. Mors.

1348W   The duty to recontact revisited. R. Pyeritz.

1349W   National Institutes of Health Controlled Data Access: Experience of the Genetic Association Information Network Data Access Committee. C. Din-Lovinescu, E. Bookman, C. Baker, E. L. Harris, T. Lehner, C. McKeon, J. Moss, V. Starks, G. Godynskiy, S. Sherry, L. Rodriguez, E. M. Ramos.

1350W   Statewide genetic services patient management system in New South Wales, Australia: Planning, implementation and integration. M. Tom, A. Colley.

1351W   The dbGaP data repository: Who is using it for what kinds of research? L. Walker, H. Starks, K. West, S. Fullerton.

1352W   Shwachman-Diamond syndrome diagnosis and care: Comparison in six countries. L. J. Siderius, T. Chigladze, G. Abesadze, O. Kvlividze.

1353W   Comparison of delivery models of genetic risk information for type 2 diabetes. S. B. Haga, W. Barry, R. Mills, J. Sullivan, H. F. Willard, L. P. Svetkey, G. S. Ginsburg.

1354W   Knowledge and attitudes regarding genomic medicine and research in South Florida’s Hispanic and Black communities. S. Hahn, K. Czape, A. Rupchock, M. Gavier, C. Jean, L. D. Adams, J. Lee, M. A. Pericak-Vance.

1355W   Recorded interviews with human geneticists: An international web-based historical resource. P. S. Harper.

1356W   Managing ethical, legal, and social issues in cancer genome sequencing projects: A survey of current practices. C. Allen, W. D. Foulkes.

1357W   Parents' preferences for return of results in pediatric genomic research. J. G. Amatruda, S. I. Ziniel, E. D. Harris, C. M. Clinton, S. K. Savage, N. L. Huntington, R. C. Green, I. A. Holm.

1358W   “It’s really good judgment on their part not to tell people the stuff they can’t control”: Experience of whole exome sequencing among breast cancer survivors. B. Bernhardt, H. Pang, J. Powers, J. Stopfer, S. Domchek, K. Nathanson.

1359W   Citizens’ values regarding expanded newborn screening and the role of parental consent: A public engagement study. Y. Bombard, F. A. Miller, R. Z. Hayeems, J. C. Carroll, D. Avard, J. Allanson, R. Axler, J. Bytautas, P. Chakraborty, Y. Giguere, J. Little, B. J. Wilson.

1360W   Legislation on direct-to-consumer genetic testing in seven European countries. P. Borry, R. E. van Hellemondt, D. Sprumont, C. Fittipaldi Duarte Jale, E. Rial-Sebbag, T. Matthias Spranger, L. Curren, J. Kaye, H. Nys, H. Howard.

1361W   PGD and PGS, between practice and ethics, what happens in Quebec? C. Bouffard, S. L. Tan, A. K. Maglo, M. A. Dubois, R. Drouin.

1362W   Parental perspectives on pediatric genetic research. T. Brazg, H. K. Tabor, J. Crouch, S. M. Fullerton, B. S. Wilfond.

1363W   ELSI challenges encountered when integrating population-based and clinical biobanks into a national biobank infrastructure: The case of Biobank Norway. I. Budin-Ljřsne, B. Solberg, J. R. Harris.

Prenatal and Perinatal Genetics


1364W   The role of the human growth receptor exon 3 polymorphism (hGHRd3) in maternal glycemia and neonate size. E. S. Ingersoll, H. Weis, C. M. Ackerman, L. P. Lowe, M. G. Hayes, B. E. Metzger, W. L. Lowe, M. Urbanek, HAPO Study Cooperative Research Group.

1365W   Chromosomal prenatal diagnosis: Study of 250 cases. C. Albu, D. Albu, E. Severin, M. Dumitrescu.

1366W   Prenatal molecular diagnosis of Down syndrome: A comparison between molecular and traditional karyotyping. D. Chu, J. Liou.

1367W   Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR: East-Slovenian experiences. A. Erjavec Skerget, S. Stangler Herodez, A. Zagorac, B. Zagradisnik, N. Kokalj Vokac.

1368W   A comparison of emerging technologies for aneuploidy detection in spontaneous pregnancy loss. C. N. Paxton, S. South, A. Brothman, K. Geiersbach.

1369W   Rapid prenatal diagnosis of common chromosome aneuploidies using quantitative fluorescent (QF)-PCR: 10 years experience in a center from the Republic of Macedonia. D. Plaseska-Karanfilska, S. Madjunkova, I. Maleva, S. Kiprijanovska.

1370W   BACs on Beads technology, a rapid and reliable screening for chromosomal aneuploidies: One year experience. G. Queipo, J. Duran, Z. Najera, N. Najera, R. García- Cavazos.

1371W   Female infant with t(X;Y), including SRY. S. Ramanathan, M. D. Maxwell Lutz, H. S. Brar, R. D. Clark.

1372W   Detection of identical unbalanced karyotype in two consequent fetuses due to a maternal pericentric inversion of chromosome 18. F. I. Sahin, O. Ozer, E. Tarim, Z. Yilmaz.

1373W   Limitations of quantitative fluorescent polimerase chain reaction (QF-PCR) method on detection of common chromosome aneuploidies. Y. K. Terzi, O. Ozer, Z. Yilmaz, E. Tarim, F. Yanik, F. I. Sahin.

1374W   A recurrent familial L410R mutation in the TSC2 gene associated with isolated cardiac rhabdomyomas. R. Teitelbaum, F. Golding, G. Ryan, D. Myles-Reid, R. K. Basran, A. Milunsky, D. Chitayat.

1375W   Mutations in the planar cell polarity gene CELSR1 associated with neural tube defects in humans. R. Allache, P. De Marco, E. Merello, V. Capra, Z. Kibar.

1376W   Association of A80G polymorphism in the RFC1 gene with the risk for having spina bifida-affected offspring in Southeast Mexico and interaction with C677T-MTHFR. L. Gonzalez-Herrera, O. Vargas-Sierra, S. Contreras-Capetillo, G. Perez-Mendoza, I. Castillo-Zapata, D. Pinto-Escalante, T. Canto-Cetina.

1377W   Spectrum and frequency of pathogenic chromosomal structural variants detected among fetuses with increased nuchal translucency and have a normal karyotype. K. Choy, H. K. Wong, W. Chong, K. Y. Kwok, K. W. Suen, C. C. Wang, T. K. Lau, T. Y. Leung.

1378W   Diagnostic utility of array-based comparative genomic hybridization in a prenatal setting: Our experience of 502 cases. I. Maya, B. Davidov, E. Taub, Y. Zalzstein, M. Shohat.

1379W   Cockayne syndrome and prenatal diagnosis. B. Bozorgmehr, F. Afroozan, A. Kariminejad.

1380W   Prenatal Noonan and aCGH testing for increased nuchal translucency/thickness and cystic hygroma. C. Coffeen, N. Nakata, S. Bhatt, V. Watiker.

1381W   Diagnosis and clinical presentation of 20 patients referred for antenatal hyperechogenic kidneys with renal cysts and diabetes syndrome. K. Dahan, K. Lolin, K. Ismaili, L. Collard, B. Grisart, N. Godefroid, V. Benoit.

1382W   Difficulty in prenatal diagnosis of short ribs with polydactyly. C. Hills, M. E. Pierpont.

1383W   Fryns-like multiple congenital anomalies syndrome with 1,13 Mb chromosome 16p13.11 deletion detected by array-comparative genomic hybridization. J. Martinovic, C. Fallet-Bianco, B. Simon-Bouy, J. Michel, E. Alix, D. Sanlaville.

1384W   Retrospective study of 1,094,807 newborns showed the national average rate of preterm birth in China is 5.5%, which has been increased 14% from 2005 to 2009. N. Zhong, X.-L. Zhao, China Preterm Clinical Research Consortium.

1385W   Fetal hydrotorax — Case report. D. Albu, C. Albu, E. Severin, M. Dumitrescu.

1386W   Prenatal ultrasound and autopsy findings in Costello syndrome. K. Chong, J. Jessen, K. Fong, S. Keating, P. Shannon.

1387W   Interaction within the 10q24.2 region with in utero tobacco smoke exposure on asthma risk in Latino children. S. S. Oh, D. Hu, C. Gignoux, L. Roth, L. Borrell, S. Sen, H. Farber, R. Kumar, F. Lurmann, P. Avila, D. Serebrisky, S. Thyne, W. Rodriguez-Cintron, J. Rodriguez-Santana, E. Gonzalez Burchard.

1388W   Immune and fibrosis pathway genes are important in anti-SSA/Ro exposed neonates with congenital heart block and/or cardiomyopathy. R. M. Clancy, P. S. Ramos, M. C. Marion, J. P. Buyon, C. D. Langefeld.

1389W   Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate transcription factor IIH in regulation of cellular metabolism in placenta. R. Moslehi, A. Kumar, J. L. Mills, X. Ambroggio, C. Signore, A. Dzutsev.

1390W   The fetal RHD genotyping and gender determination from cell-free fetal DNA circulating in maternal blood. A. Stan, C. Dragomir, L. Savu, E. Severin.

1391W   Non-invasive prenatal detection of a novel 12p12.1-p11.22 microdeletion in a fetus by next-generation sequencing of maternal plasma DNA. D. Peters, T. Chu, S. Yatsenko, N. Hendrix, W. Allen Hogge, U. Surti, K. Bunce, M. Dunkel, P. Shaw, A. Rajkovic.

1392W   Runs of homozygosity analysis from GWAS data for preterm birth. A. Uzun, B. Feenstra, M. L. Marazita, M. Melby, J. C. Murray, J. Padbury.

1393W   Novel loci associated with birth weight provide biological links between intrauterine growth, postnatal growth and metabolic traits. H. Yaghootkar, M. Horikoshi, D. O. Mook-Kanamori, U. Sovio, N. J. Timpson, M. Kaakinen, D. J. Berry, J. P. Bradfield, D. L. Cousmi, J. J. Hottenga, M. R. Jarvelin, M. Kerkhof, M. Kirin, E. Kreiner-Mřller, V. Lagou, H. R. Taal, E. Thiering, N. M. Warrington, J. H. Zhao, S. van Wingerden, T. M. Frayling, M. I. McCarthy, R. M. Freathy, I. Prokopenko, EGG Consortium Investigators.

1394W   Noninvasive prenatal diagnosis of multiple fetal aneuploidies using massively parallel sequencing. A. J. Sehnert, D. W. Bianchi, R. P. Rava.

1395W   Ancestral origins of African American women in the Healthy Pregnancy, Healthy Baby cohort. M. L. Miranda, M. E. Garrett, K. S. Quinn, G. K. Swamy, A. E. Ashley-Koch.

1396W   Differential impact of mtDNA mutations on the mtDNA copy number during human oogenesis and embryofetal development. J. Steffann, S. Monnot, D. C. Samuels, N. Gigarel, P. Vachin, L. Hesters, P. Burlet, Y. Ville, M. Rio, A. Benachi, R. Frydman, A.-S. Lebre, A. Munnich, A. Rotig, N. Frydman, J.-P. Bonnefont.

1397W   Novel NEB mutation in an Ashkenazi Jewish infant with severe congenital nemaline myopathy. A. Ludtke, R. Kornreich, T. Winder, L. Mehta.

1398W   Prenatal diagnosis of β-thalassemia using polymorphic marker revealed DNA recombination 5' to β-globin gene. Z. Kaini Moghaddam, M. Karimipour, A. Amiriyan, M. Taghavi, A. Sanjari, M. Chobini, S. Zeinali.

1399W   Preimplantation genetic diagnosis based detection of uniparental disomy on embryos undergoing IVF. G. Ozgon, A. Fejzullahu, K. Senvardar, A. Biricik, F. Fiorentino.

1400W   Pre-implantation genetic diagnosis offers a fair chance of having unaffected offspring for mitochondrial DNA disorders. H. J. M. Smeets, D. M. E. I. Hellebrekers, R. Wolfe, A. T. M. Hendrickx, J. P. M. Geraedts, P. F. Chinnery, C. E. De Die, I. F. M. de Coo.

1401W   Monosomy 18p presenting prenatally as mild ventriculomegaly: Case report and review of the literature. K. Bajaj, M. Rosner, T. Goldwaser, J. Gebb, P. Dar, S. Klugman.

1402W   Prenatal screening of SMN1 deletion or duplication showed pregnancies in the high-risk women had a higher abnormal copy numbers of SMN1 alleles than that in the general pregnancies. Y. Chen, M. J. Liu, H. B. Li, J. Mao, H. Li.

1403W   Early delivery of infants for treatment of retinoblastoma diagnosed by prenatal RB1 mutation identification. H. Dimaras, E. Heon, J. Sutherland, M. Day, V. Khetan, J. Gardniner, H. S. L. Chan, B. L. Gallie.

1404W   Detection of aneuploidies from microdissected amniotic cells by quantitative fluorescent-polymerase chain reaction. R. Drouin, J. Lamoureux, A. Emad, E. BenDavid, K. Chun, C. Bouffard.

1405W   Clinical study of chorionic villous sampling for 10 years. K. Lee, S. Kim, S. Shim, J. Baek, D. Cha.

1406W   Distribution of fetal skeletal dysplasias in a tertiary care centre: Genetic, pathologic, and radiological findings in 91 cases. U. Mohan, S. Keating, D. Chitayat, A. Toi, K. Chong, G. Tomlinson, P. Glanc.

1407W   SNP array analysis in prenatal diagnosis: What do pregnant couples want to know? G. Oudesluijs, S. R. Riedijk, M. I. Srebniak, A. M. Joosten, L. C. P. Govaerts, K. E. M. Diderich, M. Boter, D. Van Opstal, A. Tibben, R.-J. H. Galjaard.

1408W   Non-invasive prenatal diagnosis of multiple trisomic chromosomes in a triploid fetus using a novel single nucleotide polymorphism-based bioinformatics approach. M. Rabinowitz, G. Gemelos, M. Banjevic, J. Baner, B. Levy, M. Hill.

1409W   A novel method to detect fetal trisomy in pregnant women using a selective analysis of cell-free DNA in maternal blood. K. Song, A. Sparks, C. Struble, E. Wang, W. Barrett, R. Stokowski, C. McBride, J. Zahn, D. Hollemon, K. Lee, N. Shen, J. Sandler, J. Doshi, M. Sun, J. Garrison, P. Pattee, J. Stuelpnagel, A. Tomita-Mitchell, M. Mitchell, A. Oliphant.

1410W   Impact of prenatal diagnosis on livebirth prevalence of infants with Down syndrome. C. Stoll, Y. Alembik, B. Dott, M. P. Roth.

1411W   Future choices in prenatal diagnosis: How will women decide? M. R. Susman, J. Halliday, J. Bayer, D. Amor.

1412W   Fractional DNA quantification by massively parallel shotgun sequencing — Implications for fetal fraction measurement in maternal plasma. J. Tynan, G. Hogg, M. Tang, L. Cagasan, J. Clemens, D. van den Boom, P. Oeth.

1413W   Discovery of the serum biomarker proteins in severe preeclampsia by proteomic analysis. D. H. Cha, J. S. Park, S. J. Lee, Y. N. Kim, K. P. Kim.

1414W   Analysis of the relative contribution of genetic, developmental and environmental causes to the origin of birth defects. R. Elespuru.

1415W   Prenatal onset of neonatal hemochromatosis and infantile cortical hyperostosis: A possible mechanism for disease association. N. Martin, G. Taylor, P. Whitington, H. Melin-Aldana, R. S. Lachman, W. R. Wilcox, A. Toi, R. Windrim, D. Chitayat, K. Chong.

1416W   Non-visualization of foetal gallbladder increases the risk of cystic fibrosis, when associated with echogenic bowel. C. Ferec, I. Dugueperoux, V. Scotet, M. P. Audrezet, A. H. Saliou, M. Collet, M. Blayau, S. Schmitt, A. Kitzis, F. Fresquet, F. Muller.

Reproductive Genetics


1417W   Screening for the gr/gr Y chromosome microdeletion in infertile Tunisian men. A. Htira, M. Gribaa, O. Mamay, I. Ben Charfeddine, A. Amara, D. H'mida, M. Ajina, H. Ben Ali, S. Trabelsi, A. Saad.

1418W   Role of genetic factors and oxidative stress in of idiopathic male infertility. V. Sundararajan, T. Jayapalraja, R. Kumar, R. Dada.

1419W   High level of expression and rapid purification of recombinant human FSH in CHO cells. S. Teimourain, M. H. Modarresi, M. H. Hedayati.

1420W   Study of GTn-repeat expansion in heme oxygenase-1 gene promoter as genetic cause of male infertility. A. Aleyasin, E. Siasi, J. Mowla.

1421W   Maternal smoking, gene variants of xenobiotic-metabolizing enzymes, and risk for anorectal atresia and stenosis. M. M. Jenkins, J. Reefhuis, M. L. Gallagher, S. A. Rasmussen, D. A. Koontz, C. Sturchio, E. J. Lammer, M. A. Honein, National Birth Defects Prevention Study.

1422W   G5508A polymorphism of the Sept12 gene may be associated with idiopathic male infertility. M. Shahhoseini, M. Azad, M. Sabbaghian, K. Anisi Hemaseh, A. Amiri Yekta, M. H. Sanati, M. A. Sadighi Gilani, H. Gourabi.

1423W   Association study of C109869T SNP in SLC6A14 gene with azoospermia and olidospermia in idiopathic infertile men. E. Siasi, A. Aleyasin, J. Mowla.

1424W   Gene expression profiling of uterine prolapses. H. Ak Celik, H. H. Aydin, B. Zeybek, N. Askar.

1425W   Exploration of the tissue-specific promoter of aromatase gene (CYP19) to SNP analysis in infertile men. P. Afsharian, M. Khosravi, K. Fallah-Zadeh, M. Shahhoseini.

1426W   Spontaneous pregnancies in patients with Turner syndrome. G. Bergvall, E. Stattin.

1427W   PGD via array comparative genomic hybridization can be used for any translocation to simultaneously detect unbalanced embryos and aneuploidy. P. Colls, T. Escudero, J. Fischer, G. Harton, S. Munné.

1428W   Familial X-autosome translocation associated with infertility. L. Martelli, M. L. C. Moreira, R. M. Scarparo, C. G. Picanço, C. S. Pereira, C. H. P. Grangeiro, W. A. R. Baratela, J. M. Pina Neto, S. A. Santos, J. Huber, E. S. Ramos.

1429W   Molecular genetics and cytogenetics investigation in a man with infertility and azoospermia. H. Shabanloo, N. Khazamipour, E. Bagherizadeh, F. Behjati, M. Noruzinia.

1430W   Incidence of fra (16) (q22) and its probable consequences in a worker of a place with extreme chemical pollution. H. Pour-Jafari, K. Hasrak, B. Pourjafari, S. Ghahramani, E. Kamrani Saleh.

1431W   Identification of a hotspot for non-allelic homologous recombination centered on an Alusq sequence at the DPY19L2 locus. C. Coutton, F. Abada, R. Harbuz, D. Escalier, R. Zouari, R. Merdassi, M. Ben Khelifa, F. Vialard, C. Triki, S. Hennebicq, P. S. Jouk, V. Satre, C. Arnoult, J. Lunardi, P. F. Ray.

1432W   Screening for copy number variations in couples with recurrent pregnancy loss. J. Wen, M. Stephenson, W. Robinson, S. Martell, K. Calli, E. Rajcan-Separovic.

1433W   Genetic thrombophilic mutations among Iranian couples with recurrent spontaneous abortion. A. Poursadegh Zonouzi, E. Sakhinia, A. Firoozi, N. Karimi Ansari, N. Chaparzadeh, Y. Heshmat, M. Nouri, M. Sadaghian, L. Farzadi, A. Ghasemzadeh.

1434W   Replication study of 72 single nucleotide polymorphisms associated with spontaneous very preterm birth using a state-based biobank. D. Williamson, M. Pearl, J. Yang, G. N. DeLorenze, C. J. Bean, W. M. Callaghan, A. Grant, E. Lackritz, R. Romero, G. A. Satten, H. Simhan, A. R. Torres, J. Westover, R. Yolken, M. Kharrazi.

1435W   Novel FTO locus associated with polycystic ovary syndrome. O. A. Garcia, P. Mutharasan, R. S. Legro, A. Dunaif, M. Urbanek.

1436W   Maternal genetic variation in inflammatory response genes interact with a measure of air pollution exposure to influence infant birthweight in non-Hispanic black women. A. E. Ashley-Koch, M. E. Garrett, K. S. Quinn, A. C. Buskwofie, S. Edwards, G. K. Swamy, M. L. Miranda.

1437W   Hormad1-deficiency causes azoospermia in males and pregnancy loss in females. H. Kogo, M. Tsutsumi, T. Ohye, H. Inagaki, H. Kurahashi.

1438W   Association of overweight and obesity with diminished reproductive potential through change of sperm parameters: A pilot study. M. Najafi.

1439W   Lessons from Chernobyl: Low dose irradiation at conception leads to a highly increased (epi) genetic risk. K. Sperling, A. Koerblein, H. Neitzel.

1440W   Outcomes of over 400 cycles of ‘transport’ PGD for single gene disorders. G. Harton, S. Jaroudi, M. Konstantinidis, J. Sanchez, S. Tormasi, R. Prates, N. Goodall, D. Wells.

1441W   ‘No thanks’ — Why pregnant women choose not to have cystic fibrosis carrier screening. L. Ioannou, J. Massie, S. Lewis, B. McClaren, V. Collins, M. Delatycki.

1442W   Search for autosomal recessive prenatal lethal or semi-lethal mutations by genome-wide association study of reproductive traits. J. X. Chong, G. Kosova, C. Ober.

1443W   Determining the mutation underlying a novel 46, XY disorder of sexual development using next-generation sequencing strategies. R. L. Hood, S. Douglas, C. Goldsmith, D. E. Bulman, K. M. Boycott.

1444W   No evidence for aberrant placental DNA methylation in karyotypically normal recurrent miscarriage. C. W. Hanna, D. E. McFadden, W. P. Robinson.

1445W   A familial case of macrozoospermia caused by an abnormal splicing of AURKC. M. Ben Khelifa, R. Zouari, R. Harbuz, L. Halouani, C. Arnoult, J. Lunardi, P. F. Ray.

1446W   Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14). S. Brahem, M. Mehdi, M. Mahjoub, M. Gribaa, S. Ibala, A. Saad.

1447W   Molecular diagnosis of male factor infertility using APEX microarrays. E. Oitmaa, A. Tammiste, S. Suvi, M. Punab, M. Saare, M. Remm, A. Metspalu, A. Salumets.

1448W   TP53 PIN3 and PEX4 polymorphisms are associated with recurrent in vitro fertilization failure and endometriosis. D. D. Paskulin, C. A. B. Souza, J. S. Cunha-Filho, P. Ashton-Prolla.

1449W   Genome-wide association study identifies novel candidate genes for male fertility in humans. G. Kosova, N. Scott, C. Niederberger, G. S. Prins, C. Ober.

1450W   Successful application of preimplantation genetic diagnosis for aromatic L-amino acid decarboxylase deficiency by a combination of molecular approaches. S. P. Chang, S. H. Wu, G. C. Ma, H. H. Wu, C. H. Wu, T. M. Chang, F. P. Tsai, M. Chen.

1451W   Thrombophilic mutations and susceptibility to preeclampsia in a population from Western Iran. Z. Rahimi, ZI. Rahimi, A. Vaisi-Raygani, A. Parsian.

1452W   MTHFR genotype and haplotype analysis in couples with multiple miscarriages. S. Stangler Herodez, B. Zagradisnik, A. Erjavec Skerget, V. Vlaisavljevic, N. Kokalj Vokac.

1453W   Higher clinical pregnancy rates are seen when performing 23-chromosome single nucleotide polymorphism microarray preimplantation genetic screening on blastocysts, versus day-3 embryos. A. T. Benner, P. R. Brezina, L. Du, M. C. Gunn, W. G. Kearns.

1454W   23-Chromosome single nucleotide polymorphism microarray in embryos generated from parents with known chromosomal translocations also identifies a high rate of aneuploidy. L. Du, P. R. Brezina, A. T. Benner, M. C. Gunn, W. G. Kearns.

1455W   In developing human embryos, chromosomal duplications (≥200 kilobases (kb)) are more common than deletions ≥200 kb as identified by 23 chromosome single nucleotide polymorphism microarrays. M. C. Gunn, P. R. Brezina, A. T. Benner, L. Du, W. G. Kearns.

1456W   Aneuploidy in human embryos is associated with clinically significant deletions and duplications identified by 23 chromosome single nucleotide polymorphism microarrays. W. G. Kearns, P. R. Brezina, L. Du, M. C. Gunn, A. T. Benner.

1457W   Preimplantation genetic diagnosis for recurrent pregnancy loss using array CGH. S. Munne, R. Prates, S. Tormasi, N. Goodal, G. Harton, P. Colls.

1458W   In women with a history of recurrent pregnancy loss under 40 years of age, the rate of aneuploidy seen in embryos is relatively constant with advancing maternal age. K. Richter, P. R. Brezina, A. T. Benner, L. Du, M. C. Gunn, B. Boyd, W. G. Kearns.

1459W   Single nucleotide polymorphisms in angiogenesis regulating genes and the risk of preeclampsia and small for gestational age infants: Evidence from parent-infant trios. P. H. Andraweera, G. A. Dekker, S. D. Thompson, L. M. E. McCowan, R. A. North, C. T. Roberts on behalf of the SCOPE Consortium.

1460W   DNA methylation profile of trisomy 22 placentas. J. D. Blair, D. Diego-Alvarez, M. S. Peńaherrera, D. E. McFadden, W. P. Robinson.

1461W   Genome-wide genetic analysis of spermatogenic failure. D. Conrad, K. I. Aston, C. Ober, P. N. Schlegel, D. T. Carrell.

1462W   Self-reported reproductive pathology in women with tuberous sclerosis complex. E. Gabitzsch, M. Raia, M. K. Koenig, V. H. Whittemore, H. Northrup, S. Nader-Eftekhari, M. J. Gambello.

1463W   Polymorphisms in LEP, LEPR, and PPARγ are associated with age at menarche and menopause in Korean women. K.-Z. Kim, A. Shin, Y.-S. Lee, S.-Y. Kim, Y.-J. Kim, E.-S. Lee.

1464W   Risk assessment of ART and its related factors in the development of Prader-Willi syndrome. K. Matsubara, N. Murakami, S. Sakazume, Y. Oto, T. Nagai, T. Ogata.

1465W   Apoptosis is not the mechanism for embryo self correction of aneuploidy at the blastocyst stage. B. R. McCallie, R. Loper, H. Buttermore, W. B. Schoolcraft, M. G. Katz-Jaffe.

1466W   PARP-3 polymorphism of an ADP-ribosyltransferase 3 is associated with reduced sperm count in Czech dysfertile men. P. Norambuena, P. Krenkova, A. Stambergova, M. Macek, Jr., M. Macek, Sr.

1467W   Differential expression of NELF splice variants in human and mouse immortalized GnRH neurons. S. D. Quaynor, L. Y. Goldberg, H. G. Kim, L. P. Chorich, L. C. Layman.

1468W   High genetic heterogeneity in the causation of moles in patients with no NLRP7 mutations. R. Reddy, J. Qian, R. Bagga, M. C. Addor, J. Majewski, R. Slim.

1469W   Molecular study and familial pattern of internal apoptotic pathway BAX and BCL2 genes and mitochondrial genome in idiopathic repeated pregnancy loss. S. M. Seyedhassani, M. Houshmand, A. Aflatoonian, S. M. Kalantar, G. Modabber.

1470W   Are ABO and Rh blood groups new genetics risk factors for endometriosis? S. M. B. Tabei, K. Daliri, P. Rostami, A. Nariman.

1471W   Mutation in the SYCP3 gene identified in a woman with recurrent pregnancy loss affect the synaptonemal complex conformation at meiotic prophase I. M. Tsutsumi, H. Kogo, H. Inagaki, T. Ohye, H. Kurahashi.

1472W   Association of cytokine gene polymorphisms and recurrent miscarriages. A. Kaur, N. Sudhir, A. Kaur.

1473W   Analysis of sperm telomeric length in idiopathic infertile men. J. Thilagavathi, S. Venkatesh, M. Kumar, R. Kumar, R. Dada.