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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.
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.
Structure/Function Analysis of Recurrent Mutations in SETD2 Protein Reveals a Critical and Conserved Role for a SET Domain Residue in Maintaining Protein Stability and Histone H3 Lys-36 Trimethylation.
Hacker KE, Fahey CC, Shinsky SA, Chiang YJ, DiFiore JV, Jha DK, Vo AH, Shavit JA, Davis IJ, Strahl BD, Rathmell WK. Hacker KE, et al. Among authors: shavit ja. J Biol Chem. 2016 Sep 30;291(40):21283-21295. doi: 10.1074/jbc.M116.739375. Epub 2016 Aug 15. J Biol Chem. 2016. PMID: 27528607 Free PMC article.
pak2a mutations cause cerebral hemorrhage in redhead zebrafish.
Buchner DA, Su F, Yamaoka JS, Kamei M, Shavit JA, Barthel LK, McGee B, Amigo JD, Kim S, Hanosh AW, Jagadeeswaran P, Goldman D, Lawson ND, Raymond PA, Weinstein BM, Ginsburg D, Lyons SE. Buchner DA, et al. Among authors: shavit ja. Proc Natl Acad Sci U S A. 2007 Aug 28;104(35):13996-4001. doi: 10.1073/pnas.0700947104. Epub 2007 Aug 22. Proc Natl Acad Sci U S A. 2007. PMID: 17715297 Free PMC article.
68 results