Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing Genotype-Phenotype Association in Incidental ARVC Genetic Findings Christopher M. Haggerty, PhD1; Cynthia A. James, ScM, PhD2; Hugh Calkins, MD2; Crystal Tichnell, MGC2; Joseph B. Leader, BA3; Dustin N. Hartzel, BS3; Christopher D. Nevius, BT1; Sarah A. Pendergrass, PhD3; Thomas N. Person, MS3; Marci Schwartz, ScM5; Marylyn D. Ritchie, PhD3; David J. Carey, PhD4; David H. Ledbetter, PhD5; Marc S. Williams, MD5; Frederick E. Dewey, MD6; Alexander Lopez, MS6; John Penn, PSM6; John D. Overton, PhD6; Jeffrey G. Reid, PhD6; Matthew Lebo, PhD7,8; Heather Mason-Suares, PhD7,8; Christina Austin-Tse, PhD7; Heidi L. Rehm, PhD7,8; Brian P. Delisle, PhD9; Daniel J. Makowski, DO10; Vishal C. Mehra, MD, PhD10; Michael F. Murray, MD5; Brandon K. Fornwalt, MD, PhD1 1Department of Imaging Science and Innovation, Geisinger Health System, Danville, PA, USA 2Department of Medicine, Division of Cardiology, Johns Hopkins University, Baltimore, MD, USA 3Biomedical and Translational Informatics Institute, Geisinger Health System, Danville, PA, USA 4Weis Center for Health Research, Geisinger Health System, Danville, PA, USA 5Genomic Medicine Institute, Geisinger Health System, Danville, PA, USA 6Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA 7Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA 8Department of Pathology, Brigham and MA, USA Women’s Hospital, Harvard Medical School, Boston, 9Department of Physiology, University of Kentucky, Lexington, KY, USA 10Division of Cardiology, Geisinger Health System, Danville, PA, USA
Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing Genotype-Phenotype Association in Incidental ARVC Genetic Findings Christopher M. Haggerty, PhD1; Cynthia A. James, ScM, PhD2; Hugh Calkins, MD2; Crystal Tichnell, MGC2; Joseph B. Leader, BA3; Dustin N. Hartzel, BS3; Christopher D. Nevius, BT1; Sarah A. Pendergrass, PhD3; Thomas N. Person, MS3; Marci Schwartz, ScM5; Marylyn D. Ritchie, PhD3; David J. Carey, PhD4; David H. Ledbetter, PhD5; Marc S. Williams, MD5; Frederick E. Dewey, MD6; Alexander Lopez, MS6; John Penn, PSM6; John D. Overton, PhD6; Jeffrey G. Reid, PhD6; Matthew Lebo, PhD7,8; Heather Mason-Suares, PhD7,8; Christina Austin-Tse, PhD7; Heidi L. Rehm, PhD7,8; Brian P. Delisle, PhD9; Daniel J. Makowski, DO10; Vishal C. Mehra, MD, PhD10; Michael F. Murray, MD5; Brandon K. Fornwalt, MD, PhD1 1Department of Imaging Science and Innovation, Geisinger Health System, Danville, PA, USA 2Department of Medicine, Division of Cardiology, Johns Hopkins University, Baltimore, MD, USA 3Biomedical and Translational Informatics Institute, Geisinger Health System, Danville, PA, USA 4Weis Center for Health Research, Geisinger Health System, Danville, PA, USA 5Genomic Medicine Institute, Geisinger Health System, Danville, PA, USA 6Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA 7Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA 8Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA 9Department of Physiology, University of Kentucky, Lexington, KY, USA 10Division of Cardiology, Geisinger Health System, Danville, PA, USA
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