Associated Papers
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic basis of sudden death after COVID-19 vaccination in Thailand.
Ittiwut C et al.
Heart Rhythm, 2022
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
Pathological findings of myocardium in a patient with cardiac conduction defect associated with an SCN5A mutation.
Kawano H et al.
Medical Molecular Morphology, 2021
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
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.
Chen CJ et al.
Frontiers in Genetics, 2018
Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.
Goh G et al.
Plos Medicine, 2016
A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG.
Turker I et al.
Plos One, 2016
Long QT syndrome with mutations in three genes: A rare case.
Fernandes M et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.
Hoshi M et al.
Circulation. Cardiovascular Genetics, 2014
Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
Sommariva E et al.
European Journal of Human Genetics : Ejhg, 2013
SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities.
Watanabe H et al.
International Journal of Cardiology, 2013
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a.
Hesse M et al.
Cardiovascular Research, 2007
Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome.
Frustaci A et al.
Circulation, 2005
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0