Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

Life Sciences, Bioinformatics, Molecular Biology +15

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

Stefano Nistri · European Heart Journal · 2014 · 4.3K citations · Full text

Medicine, Cardiology, Internal Medicine +13

Contemporary Definitions and Classification of the Cardiomyopathies

Barry J. Maron, Jeffrey A. Towbin, Gaetano Thiene et al. · Circulation · 2006 · 3.4K citations

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