Associated Papers
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants.
Ma JG et al.
Circulation. Genomic and Precision Medicine, 2024
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Ma JG et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.
Popa-Fotea NM et al.
International Journal of Molecular Sciences, 2023
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes.
Fouda MA et al.
The Journal of Physiology, 2022
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Al-Shafai KN et al.
Molecular Genetics & Genomic Medicine, 2021
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.
Zakrzewska-Koperska J et al.
Bmc Medical Genetics, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Novel idiopathic DCM-related SCN5A variants localised in DI-S4 predispose electrical disorders by reducing peak sodium current density.
Shen C et al.
Journal of Medical Genetics, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.
Nouhravesh N et al.
Molecular Genetics & Genomic Medicine, 2016
The role of mutations in the SCN5A gene in cardiomyopathies.
Zaklyazminskaya E et al.
Biochimica Et Biophysica Acta, 2016
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Unveiling specific triggers and precipitating factors for fatal cardiac events in inherited arrhythmia syndromes.
Nakajima T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?
Gosselin-Badaroudine P et al.
Channels (austin, Tex.), 2014
[Dilated cardiomyopathy caused by p.E446K mutation in SCN5A gene].
Zakliaz'minskaia EV et al.
Kardiologiia, 2014
Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant.
Crotti L et al.
Heart Rhythm, 2012
SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
McNair WP et al.
Journal of the American College of Cardiology, 2011