Characterization of a novel SCN5A genetic variant A1294G associated with mixed clinical phenotype

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

ClinVar: improving access to variant interpretations and supporting evidence

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2017 · 4.5K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Jamie D. Kapplinger, David J. Tester, Mariëlle Alders et al. · Heart Rhythm · 2009 · 764 citations

Life Sciences, Cardiology, Genetics +16

A Single Na ⁺ Channel Mutation Causing Both Long-QT and Brugada Syndromes

Connie R. Bezzina, Marieke W. Veldkamp, Maarten P. van den Berg et al. · Circulation Research · 1999 · 641 citations · Full text

Medicine, Cardiology, Genetics +17

Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.

Mary Gellens, Alfred L. George, L Q Chen et al. · Proceedings of the National Academy of Sciences · 1992 · 630 citations

Medicine, Cardiology, Pharmacology +17