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

10.1038/gim.2017.218

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Main Authors:	Kelly, M.A, Caleshu, C, Morales, A
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	Nature Publishing Group 2020
Subjects:	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
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/179048
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1790482023-08-07T09:38:51Z Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel Kelly, M.A Caleshu, C Morales, A DUKE-NUS MEDICAL SCHOOL myosin heavy chain cardiac myosin MYH7 protein, human myosin heavy chain 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 cardiomyopathy 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 10.1038/gim.2017.218 Genetics in Medicine 20 3 351-359 2020-10-22T07:27:40Z 2020-10-22T07:27:40Z 2018 Article Kelly, M.A, Caleshu, C, Morales, A (2018). 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 20 (3) : 351-359. ScholarBank@NUS Repository. https://doi.org/10.1038/gim.2017.218 10983600 https://scholarbank.nus.edu.sg/handle/10635/179048 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Nature Publishing Group Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	myosin heavy chain cardiac myosin MYH7 protein, human myosin heavy chain 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 cardiomyopathy 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
spellingShingle	myosin heavy chain cardiac myosin MYH7 protein, human myosin heavy chain 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 cardiomyopathy 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 Kelly, M.A Caleshu, C Morales, A Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
description	10.1038/gim.2017.218
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Kelly, M.A Caleshu, C Morales, A
format	Article
author	Kelly, M.A Caleshu, C Morales, A
author_sort	Kelly, M.A
title	Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
title_short	Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
title_full	Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
title_fullStr	Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
title_full_unstemmed	Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
title_sort	adaptation and validation of the acmg/amp variant classification framework for myh7-associated inherited cardiomyopathies: recommendations by clingen's inherited cardiomyopathy expert panel
publisher	Nature Publishing Group
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/179048
_version_	1779152422222954496

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

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