Associated Papers
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.
d'Apolito M et al.
International Journal of Molecular Sciences, 2025
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
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S13
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.
Kuo CW et al.
Molecular Genetics & Genomic Medicine, 2020
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf
Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Jamuar SS et al.
Ebiomedicine, 2016
Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.
Hoshi M et al.
Circulation. Cardiovascular Genetics, 2014
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
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A.
Ou SW et al.
The European Journal of Neuroscience, 2005
Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
Maekawa K et al.
Annals of Human Genetics, 2005
Select a paper to view details