Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

Genetics in Medicine

Volumn 20, Issue 3, 2018, Pages 351-359

  Kelly, Melissa A ^a   Caleshu, Colleen ^b   Morales, Ana ^c   Buchan, Jillian ^a   Wolf, Zena ^a   Harrison, Steven M ^a   Cook, Stuart ^d   Dillon, Mitchell W ^a   Garcia, John ^e   Haverfield, Eden ^e   Jongbloed, Jan D H ^f   Macaya, Daniela ^g   Manrai, Arjun ^h   Orland, Kate ⁱ   Richard, Gabriele ^g   Spoonamore, Katherine ^j   Thomas, Matthew ^k   Thomson, Kate ^l,m   Vincent, Lisa M ^g   Walsh, Roddy ^d,n   Watkins, Hugh ^m   Whiffin, Nicola ^d,n   Ingles, Jodie ^o   Van Tintelen, J Peter ^p   Semsarian, Christopher ^o   Ware, James S ^d,n   Hershberger, Ray ^c   Funke, Birgit ^a,q,r   Berg, Jonathan ^s   Milko, Laura ^s   Rivera Munoz, Edgar A ^s   Ackerman, Michael ^s   Care, Melanie ^s   DeBacker, Julie ^s   Deitz, Hal ^s   Gollob, Michael ^s   Knowles, Joshua ^s   Loeys, Bart ^s   McKenna, Bill ^s   Milewicz, Dianna ^s   Novelli, Valeria ^s   Sturm, Amy ^s   Wilde, Arthur ^s   more..

^a LABORATORY FOR MOLECULAR MEDICINE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^e Invitae   (United States)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g GENEDX   (United States)

^h HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

ⁱ University of Wisconsin Health   (United States)

^j INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF VIRGINIA   (United States)

^l CHURCHILL HOSPITAL   (United Kingdom)

^m UNIVERSITY OF OXFORD   (United Kingdom)

ⁿ ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^o UNIVERSITY OF SYDNEY   (Australia)

^p UNIVERSITY OF AMSTERDAM   (Netherlands)

^q MASSACHUSETTS GENERAL HOSPITAL   (United States)

^r HARVARD MEDICAL SCHOOL   (United States)

^s NONE

more..

Author keywords

Cardiomyopathy; ClinGen; HCM; Myosin heavy chain 7; Variant interpretation

Indexed keywords

MYOSIN HEAVY CHAIN; CARDIAC MYOSIN; MYH7 PROTEIN, HUMAN;

ADULT; ARTICLE; CARDIOMYOPATHY; CONCEPTUAL FRAMEWORK; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE CLASSIFICATION; GENE; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LABORATORY DIAGNOSIS; MYH7 GENE; PATHOGENESIS; PILOT STUDY; RESTRICTIVE CARDIOMYOPATHY; RETROSPECTIVE STUDY; ALLELE; CLINICAL DECISION MAKING; EXPERT WITNESS; GENETIC DISORDER; GENETIC VARIATION; GENETICS; PHENOTYPE; PROCEDURES; REPRODUCIBILITY; STANDARDS;

ALLELES; CARDIAC MYOSINS; CARDIOMYOPATHIES; CLINICAL DECISION-MAKING; EXPERT TESTIMONY; GENE FREQUENCY; GENETIC DISEASES, INBORN; GENETIC TESTING; GENETIC VARIATION; HUMANS; MYOSIN HEAVY CHAINS; PHENOTYPE; REPRODUCIBILITY OF RESULTS;

EID: 85044572143     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.218     Document Type: Article

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