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  • Showing 1-16 of 16 Results
2014
A framework for the interpretation of de novo mutation in human disease.Samocha, KE, Robinson EB, Sanders SJ, Stevens C., Sabo A., McGrath LM, Kosmicki JA, Rehnström K., Mallick S., Kirby A., Wall DP, Macarthur DG, Gabriel SB, DePristo M., Purcell SM, Palotie A., Boerwinkle E., Buxbaum JD, Cook EH Jr, Gibbs RA, et al. Nature genetics, 2014/08/03, (2014) Read More / View Supplemental Materials
Abstract
The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort.Robinson, EB, Kirby A., Ruparel K., Yang J., McGrath L., Anttila V., Neale BM, Merikangas K., Lehner T., Sleiman PM, Daly M. J., Gur R., Gur R., and Hakonarson H. Molecular psychiatry, 2014/07/15, (2014) Read More / View Supplemental Materials
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2013
Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency.Kasippillai, T., Macarthur DG, Kirby A., Thomas B., Lambalk CB, Daly M. J., and Welt CK The Journal of clinical endocrinology and metabolism, 2013/07/31, (2013) Read More / View Supplemental Materials
Abstract
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.Kirby, A., Gnirke A., Jaffe DB, Barešová V., Pochet N., Blumenstiel B., Ye C., Aird D., Stevens C., Robinson JT, Cabili MN, Gat-Viks I., Kelliher E., Daza R., DeFelice M., Hůlková H., Sovová J., Vylet'al P., Antignac C., Guttman M., et al. Nature genetics, 2013/03/01, Volume 45, Issue 3, p.299-303, (2013) Read More / View Supplemental Materials
Abstract
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.Lim, ET, Raychaudhuri S., Sanders SJ, Stevens C., Sabo A., Macarthur DG, Neale BM, Kirby A., Ruderfer DM, Fromer M., Lek M., Liu L., Flannick J., Ripke S., Nagaswamy U., Muzny D., Reid JG, Hawes A., Newsham I., Wu Y., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (2013) Read More / View Supplemental Materials
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2012
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries.Talkowski, ME, Rosenfeld JA, Blumenthal I., Pillalamarri V., Chiang C., Heilbut A., Ernst C., Hanscom C., Rossin E., Lindgren AM, Pereira S., Ruderfer D., Kirby A., Ripke S., Harris DJ, Lee JH, Ha K., Kim HG, Solomon BD, Gropman AL, et al. Cell, 2012/04/27, Volume 149, Issue 3, p.525-37, (2012) Read More / View Supplemental Materials
Abstract
Patterns and rates of exonic de novo mutations in autism spectrum disorders.Neale, BM, Kou Y., Liu L., Ma'ayan A., Samocha KE, Sabo A., Lin CF, Stevens C., Wang LS, Makarov V., Polak P., Yoon S., Maguire J., Crawford EL, Campbell NG, Geller ET, Valladares O., Schafer C., Liu H., Zhao T., et al. Nature, 2012/04/04, (2012) Read More / View Supplemental Materials
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2011
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Rivas, MA, Beaudoin M., Gardet A., Stevens C., Sharma Y., Zhang CK, Boucher G., Ripke S., Ellinghaus D., Burtt N., Fennell T., Kirby A., Latiano A., Goyette P., Green T., Halfvarson J., Haritunians T., Korn JM, Kuruvilla F., Lagacé C., et al. Nature genetics, 2011/10/09, Volume 43, Issue 11, p.1066-73, (2011) Read More / View Supplemental Materials
Abstract
2010
Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.Burrage, LC, Baskin-Hill AE, Sinasac DS, Singer JB, Croniger CM, Kirby A., Kulbokas E. J., Daly M. J., Lander E. S., Broman KW, and Nadeau JH Mammalian genome : official journal of the International Mammalian Genome Society, 2010/04/01, Volume 21, Issue 3-4, p.115-29, (2010) Read More / View Supplemental Materials
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2008
Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis.Shao, H., Burrage LC, Sinasac DS, Hill AE, Ernest SR, O'Brien W., Courtland HW, Jepsen KJ, Kirby A., Kulbokas E. J., Daly M. J., Broman KW, Lander E. S., and Nadeau JH Proceedings of the National Academy of Sciences of the United States of America, 2008/12/16, Volume 105, Issue 50, p.19910-4, (2008) Read More / View Supplemental Materials
Abstract
Integrated detection and population-genetic analysis of SNPs and copy number variation.McCarroll, SA, Kuruvilla FG, Korn JM, Cawley S., Nemesh J., Wysoker A., Shapero MH, de Bakker PI, Maller JB, Kirby A., Elliott AL, Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins PJ, Handsaker R., Lincoln S., Nizzari M., et al. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1166-74, (2008) Read More / View Supplemental Materials
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2006
Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19.Tello-Ruiz, MK, Curley C., DelMonte T., Giallourakis C., Kirby A., Miller K., Wild G., Cohen A., Langelier D., Latiano A., Wedemeyer N., Lander E., Schreiber S., Annese V., Daly M. J., and Rioux JD European journal of human genetics : EJHG, 2006/06/01, Volume 14, Issue 6, p.780-90, (2006) Read More / View Supplemental Materials
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2005
Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.Petryshen, TL, Middleton FA, Tahl AR, Rockwell GN, Purcell S., Aldinger KA, Kirby A., Morley CP, McGann L., Gentile KL, Waggoner SG, Medeiros HM, Carvalho C., Macedo A., Albus M., Maier W., Trixler M., Eichhammer P., Schwab SG, Wildenauer DB, et al. Molecular psychiatry, 2005/12/01, Volume 10, Issue 12, p.1074-88, 1057, (2005) Read More / View Supplemental Materials
Abstract
Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains.Petryshen, TL, Kirby A., Hammer RP Jr, Purcell S., O'Leary SB, Singer JB, Hill AE, Nadeau JH, Daly M. J., and Sklar P. Genetics, 2005/12/01, Volume 171, Issue 4, p.1895-904, (2005) Read More / View Supplemental Materials
Abstract
A high-density screen for linkage in multiple sclerosis.Sawcer, S., Ban M., Maranian M., Yeo TW, Compston A., Kirby A., Daly M. J., De Jager PL, Walsh E., Lander E. S., Rioux JD, Hafler DA, Ivinson A., Rimmler J., Gregory SG, Schmidt S., Pericak-Vance MA, Akesson E., Hillert J., Datta P., et al. American journal of human genetics, 2005/09/01, Volume 77, Issue 3, p.454-67, (2005) Read More / View Supplemental Materials
Abstract
Support for involvement of neuregulin 1 in schizophrenia pathophysiology.Petryshen, TL, Middleton FA, Kirby A., Aldinger KA, Purcell S., Tahl AR, Morley CP, McGann L., Gentile KL, Rockwell GN, Medeiros HM, Carvalho C., Macedo A., Dourado A., Valente J., Ferreira CP, Patterson NJ, Azevedo MH, Daly M. J., Pato CN, et al. Molecular psychiatry, 2005/04/01, Volume 10, Issue 4, p.366-74, 328, (2005) Read More / View Supplemental Materials
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  • Showing 1-16 of 16 Results