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Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
Nielsen JB, Thorolfsdottir RB, Fritsche LG, Zhou W, Skov MW, Graham SE, Herron TJ, McCarthy S, Schmidt EM, Sveinbjornsson G, Surakka I, Mathis MR, Yamazaki M, Crawford RD, Gabrielsen ME, Skogholt AH, Holmen OL, Lin M, Wolford BN, Dey R, Dalen H, Sulem P, Chung JH, Backman JD, Arnar DO, Thorsteinsdottir U, Baras A, O'Dushlaine C, Holst AG, Wen X, Hornsby W, Dewey FE, Boehnke M, Kheterpal S, Mukherjee B, Lee S, Kang HM, Holm H, Kitzman J, Shavit JA, Jalife J, Brummett CM, Teslovich TM, Carey DJ, Gudbjartsson DF, Stefansson K, Abecasis GR, Hveem K, Willer CJ. Nielsen JB, et al. Among authors: shavit ja. Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30. Nat Genet. 2018. PMID: 30061737 Free PMC article.
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
Desch KC, Ozel AB, Siemieniak D, Kalish Y, Shavit JA, Thornburg CD, Sharathkumar AA, McHugh CP, Laurie CC, Crenshaw A, Mirel DB, Kim Y, Cropp CD, Molloy AM, Kirke PN, Bailey-Wilson JE, Wilson AF, Mills JL, Scott JM, Brody LC, Li JZ, Ginsburg D. Desch KC, et al. Among authors: shavit ja. Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):588-93. doi: 10.1073/pnas.1219885110. Epub 2012 Dec 24. Proc Natl Acad Sci U S A. 2013. PMID: 23267103 Free PMC article.
Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy.
Helms AS, Tang VT, O'Leary TS, Friedline S, Wauchope M, Arora A, Wasserman AH, Smith ED, Lee LM, Wen XW, Shavit JA, Liu AP, Previs MJ, Day SM. Helms AS, et al. Among authors: shavit ja. JCI Insight. 2020 Jan 30;5(2):e133782. doi: 10.1172/jci.insight.133782. JCI Insight. 2020. PMID: 31877118 Free PMC article.
Exocyst function is regulated by effector phosphorylation.
Chen XW, Leto D, Xiao J, Goss J, Wang Q, Shavit JA, Xiong T, Yu G, Ginsburg D, Toomre D, Xu Z, Saltiel AR. Chen XW, et al. Among authors: shavit ja. Nat Cell Biol. 2011 May;13(5):580-8. doi: 10.1038/ncb2226. Epub 2011 Apr 24. Nat Cell Biol. 2011. PMID: 21516108 Free PMC article.
68 results