Associated Papers
The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy.
Vouloagkas I et al.
Heart Failure Reviews, 2025
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.
Ye D et al.
Circulation. Genomic and Precision Medicine, 2024
Polymorphic Variants of SCN5A Gene (rs41312433 and rs1805124) Associated with Coronary Artery Affliction in Patients with Severe Arrhythmias.
Vašků A et al.
Genes, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Single coronary artery presenting dilated cardiomyopathy and hyperlipidemia with the SCN5A and APOA5 gene mutation: A case report and review of the literature.
Hu X et al.
Frontiers in Cardiovascular Medicine, 2023
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
Lota AS et al.
Circulation, 2022
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF.
Li Q et al.
Andrologia, 2022
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Sahlin E et al.
Plos One, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD et al.
Circulation. Cardiovascular Genetics, 2015
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
Riuró H et al.
European Journal of Human Genetics : Ejhg, 2015
Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.
Hoshi M et al.
Circulation. Cardiovascular Genetics, 2014
Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.
Calloe K et al.
Circulation. Arrhythmia and Electrophysiology, 2013
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010