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796 results

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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J; GTEx Consortium; Geuvadis Consortium; Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG. Rivas MA, et al. Among authors: mccarthy mi. Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877. Science. 2015. PMID: 25954003 Free PMC article.
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.
Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly MJ, Frayling TM, Groop L, Altshuler D. Winckler W, et al. Among authors: mccarthy mi. Diabetes. 2007 Mar;56(3):685-93. doi: 10.2337/db06-0202. Diabetes. 2007. PMID: 17327436
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS; Wellcome Trust Case Control Consortium (WTCCC); McCarthy MI, Hattersley AT. Zeggini E, et al. Among authors: mccarthy mi. Science. 2007 Jun 1;316(5829):1336-41. doi: 10.1126/science.1142364. Epub 2007 Apr 26. Science. 2007. PMID: 17463249 Free PMC article.
Genomics, type 2 diabetes, and obesity.
McCarthy MI. McCarthy MI. N Engl J Med. 2010 Dec 9;363(24):2339-50. doi: 10.1056/NEJMra0906948. N Engl J Med. 2010. PMID: 21142536 Free article. Review. No abstract available.
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes.
Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, Kong A, Thorsteindottir U, Shin SY, Richards HB; GIANT Consortium; MAGIC Investigators; DIAGRAM Consortium; Soranzo N, Ahmadi KR, Lindgren CM, Stefansson K, Dermitzakis ET, Deloukas P, Spector TD, McCarthy MI; MuTHER Consortium. Small KS, et al. Among authors: mccarthy mi. Nat Genet. 2011 Jun;43(6):561-4. doi: 10.1038/ng.833. Epub 2011 May 15. Nat Genet. 2011. PMID: 21572415 Free PMC article.
Sex-biased genetic effects on gene regulation in humans.
Dimas AS, Nica AC, Montgomery SB, Stranger BE, Raj T, Buil A, Giger T, Lappalainen T, Gutierrez-Arcelus M; MuTHER Consortium; McCarthy MI, Dermitzakis ET. Dimas AS, et al. Among authors: mccarthy mi. Genome Res. 2012 Dec;22(12):2368-75. doi: 10.1101/gr.134981.111. Epub 2012 Sep 7. Genome Res. 2012. PMID: 22960374 Free PMC article.
796 results