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Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.
Hawkes G, Beaumont RN, Li Z, Mandla R, Li X, Albert CM, Arnett DK, Ashley-Koch AE, Ashrani AA, Barnes KC, Boerwinkle E, Brody JA, Carson AP, Chami N, Chen YI, Chung MK, Curran JE, Darbar D, Ellinor PT, Fornage M, Gordeuk VR, Guo X, He J, Hwu CM, Kalyani RR, Kaplan R, Kardia SLR, Kooperberg C, Loos RJF, Lubitz SA, Minster RL, Naseri T, Viali S, Mitchell BD, Murabito JM, Palmer ND, Psaty BM, Redline S, Shoemaker MB, Silverman EK, Telen MJ, Weiss ST, Yanek LR, Zhou H; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Liu CT, North KE, Justice AE, Locke JM, Owens N, Murray A, Patel K, Frayling TM, Wright CF, Wood AR, Lin X, Manning A, Weedon MN. Hawkes G, et al. Among authors: frayling tm. Nat Commun. 2024 Oct 3;15(1):8549. doi: 10.1038/s41467-024-52579-w. Nat Commun. 2024. PMID: 39362880 Free PMC article.
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM. Gloyn AL, et al. Among authors: frayling tm. Diabetes. 2003 Feb;52(2):568-72. doi: 10.2337/diabetes.52.2.568. Diabetes. 2003. PMID: 12540637
425 results