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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, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM; NHLBI Exome Sequencing Project; State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. Lim ET, et al. Among authors: neale bm. Neuron. 2013 Jan 23;77(2):235-42. doi: 10.1016/j.neuron.2012.12.029. Neuron. 2013. PMID: 23352160 Free PMC article.
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.
Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Maller J, Pe'er I, Burtt NP, Blumenstiel B, DeFelice M, Parkin M, Barry R, Winslow W, Healy C, Graham RR, Neale BM, Izmailova E, Roubenoff R, Parker AN, Glass R, Karlson EW, Maher N, Hafler DA, Lee DM, Seldin MF, Remmers EF, Lee AT, Padyukov L, Alfredsson L, Coblyn J, Weinblatt ME, Gabriel SB, Purcell S, Klareskog L, Gregersen PK, Shadick NA, Daly MJ, Altshuler D. Plenge RM, et al. Among authors: neale bm. Nat Genet. 2007 Dec;39(12):1477-82. doi: 10.1038/ng.2007.27. Epub 2007 Nov 4. Nat Genet. 2007. PMID: 17982456 Free PMC article.
Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
Raychaudhuri S, Remmers EF, Lee AT, Hackett R, Guiducci C, Burtt NP, Gianniny L, Korman BD, Padyukov L, Kurreeman FA, Chang M, Catanese JJ, Ding B, Wong S, van der Helm-van Mil AH, Neale BM, Coblyn J, Cui J, Tak PP, Wolbink GJ, Crusius JB, van der Horst-Bruinsma IE, Criswell LA, Amos CI, Seldin MF, Kastner DL, Ardlie KG, Alfredsson L, Costenbader KH, Altshuler D, Huizinga TW, Shadick NA, Weinblatt ME, de Vries N, Worthington J, Seielstad M, Toes RE, Karlson EW, Begovich AB, Klareskog L, Gregersen PK, Daly MJ, Plenge RM. Raychaudhuri S, et al. Among authors: neale bm. Nat Genet. 2008 Oct;40(10):1216-23. doi: 10.1038/ng.233. Epub 2008 Sep 14. Nat Genet. 2008. PMID: 18794853 Free PMC article.
Genomewide association studies: history, rationale, and prospects for psychiatric disorders.
Psychiatric GWAS Consortium Coordinating Committee; Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, Sullivan PF. Psychiatric GWAS Consortium Coordinating Committee, et al. Am J Psychiatry. 2009 May;166(5):540-56. doi: 10.1176/appi.ajp.2008.08091354. Epub 2009 Apr 1. Am J Psychiatry. 2009. PMID: 19339359 Free PMC article. Review.
Common body mass index-associated variants confer risk of extreme obesity.
Cotsapas C, Speliotes EK, Hatoum IJ, Greenawalt DM, Dobrin R, Lum PY, Suver C, Chudin E, Kemp D, Reitman M, Voight BF, Neale BM, Schadt EE, Hirschhorn JN, Kaplan LM, Daly MJ; GIANT Consortium. Cotsapas C, et al. Among authors: neale bm. Hum Mol Genet. 2009 Sep 15;18(18):3502-7. doi: 10.1093/hmg/ddp292. Epub 2009 Jun 24. Hum Mol Genet. 2009. PMID: 19553259 Free PMC article.
445 results