Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: A study of 30,716 subjects with exome sequencing

Genetics in Medicine

Volumn 19, Issue 11, 2017, Pages 1245-1252

  Haggerty, Christopher M ^a   James, Cynthia A ^b   Calkins, Hugh ^b   Tichnell, Crystal ^b   Leader, Joseph B ^a   Hartzel, Dustin N ^a   Nevius, Christopher D ^a   Pendergrass, Sarah A ^a   Person, Thomas N ^a   Schwartz, Marci ^a   Ritchie, Marylyn D ^a   Carey, David J ^a   Ledbetter, David H ^a   Williams, Marc S ^a   Dewey, Frederick E ^c   Lopez, Alexander ^c   Penn, John ^c   Overton, John D ^c   Reid, Jeffrey G ^c   Lebo, Matthew ^d,e   Mason Suares, Heather ^d,e   Austin Tse, Christina ^d   Rehm, Heidi L ^d,e   Delisle, Brian P ^f   Makowski, Daniel J ^a   Mehra, Vishal C ^a   Murray, Michael F ^a   Fornwalt, Brandon K ^a   more..

^a GEISINGER HEALTH SYSTEM   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c AB)   (United States)

^d LABORATORY FOR MOLECULAR MEDICINE   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f UNIVERSITY OF KENTUCKY   (United States)

Author keywords

arrhythmogenic right ventricular cardiomyopathy; electronic health record; exome sequencing; genotype phenotype association incidental findings

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA3;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DSC2 GENE; DSG2 GENE; DSP GENE; ELECTROCARDIOGRAM; ELECTRONIC HEALTH RECORD; FEMALE; FOLLOW UP; GENE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; ICD-9; INCIDENTAL FINDING; JUP GENE; LOSS OF FUNCTION MUTATION; MALE; MEDICAL RECORD REVIEW; PKP2 GENE; PREDICTIVE VALUE; TMEM43 GENE; WHOLE EXOME SEQUENCING; COHORT ANALYSIS; DNA SEQUENCE; EXOME; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; GENOTYPE; MIDDLE AGED; PHENOTYPE; PREVALENCE;

ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; COHORT STUDIES; ELECTRONIC HEALTH RECORDS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; PREVALENCE; SEQUENCE ANALYSIS, DNA;

EID: 85030767524     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.40     Document Type: Article

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