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Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants.
Cannie DE, Protonotarios A, Bakalakos A, Syrris P, Lorenzini M, De Stavola B, Bjerregaard L, Dybro AM, Hey TM, Hansen FG, Navarro Peñalver M, Crespo-Leiro MG, Larrañaga-Moreira JM, de Frutos F, Johnson R, Slater TA, Monserrat L, Sengupta A, Mestroni L, Taylor MRG, Sinagra G, Bilinska Z, Solla-Ruiz I, Arana Achaga X, Barriales-Villa R, Garcia-Pavia P, Gimeno JR, Dal Ferro M, Merlo M, Wahbi K, Fatkin D, Mogensen J, Rasmussen TB, Elliott PM. Cannie DE, et al. Among authors: fatkin d. Circ Genom Precis Med. 2023 Oct;16(5):434-441. doi: 10.1161/CIRCGEN.123.004059. Epub 2023 Aug 18. Circ Genom Precis Med. 2023. PMID: 37593875 Free PMC article.
Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice.
McConnell BK, Jones KA, Fatkin D, Arroyo LH, Lee RT, Aristizabal O, Turnbull DH, Georgakopoulos D, Kass D, Bond M, Niimura H, Schoen FJ, Conner D, Fischman DA, Seidman CE, Seidman JG. McConnell BK, et al. Among authors: fatkin d. J Clin Invest. 1999 Dec;104(12):1771. doi: 10.1172/jci7377c1. J Clin Invest. 1999. PMID: 10606631 Free PMC article. No abstract available.
Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice.
McConnell BK, Jones KA, Fatkin D, Arroyo LH, Lee RT, Aristizabal O, Turnbull DH, Georgakopoulos D, Kass D, Bond M, Niimura H, Schoen FJ, Conner D, Fischman DA, Seidman CE, Seidman JG. McConnell BK, et al. Among authors: fatkin d. J Clin Invest. 1999 Nov;104(9):1235-44. doi: 10.1172/JCI7377. J Clin Invest. 1999. PMID: 10545522 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
168 results