Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Case Report: Comprehensive evaluation of ECG phenotypes and genotypes in a family with Brugada syndrome carrying SCN5A-R376H.
Ly NB et al.
Frontiers in Cardiovascular Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
Pathological findings of myocardium in a patient with cardiac conduction defect associated with an SCN5A mutation.
Kawano H et al.
Medical Molecular Morphology, 2021
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.
Franceschi S et al.
Cancers, 2021
Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women.
Wu L et al.
Clinical Genetics, 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
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Wijeyeratne YD et al.
Circulation. Genomic and Precision Medicine, 2020
An autoantibody profile detects Brugada syndrome and identifies abnormally expressed myocardial proteins.
Chatterjee D et al.
European Heart Journal, 2020
Gender difference in clinical and genetic characteristics of Brugada syndrome: SADS-TW BrS registry.
Chen CJ et al.
Qjm : Monthly Journal of the Association of Physicians, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 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
Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.
Robyns T et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
Yamagata K et al.
Circulation, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
Triggers for arrhythmogenesis in the Brugada and long QT 3 syndromes.
Peters CH et al.
Progress in Biophysics and Molecular Biology, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.
Milanesi R et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2015
p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.
Hothi SS et al.
Journal of Cardiovascular Electrophysiology, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Brugada syndrome risk loci seem protective against atrial fibrillation.
Andreasen L et al.
European Journal of Human Genetics : Ejhg, 2014
Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience.
Wong LC et al.
Circulation. Arrhythmia and Electrophysiology, 2014
Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.
Detta N et al.
International Journal of Cardiology, 2014
Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation.
Papadakis M et al.
Circulation. Arrhythmia and Electrophysiology, 2013
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
Tarradas A et al.
Plos One, 2013
A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
Shinlapawittayatorn K et al.
Circulation. Cardiovascular Genetics, 2011
State of the art in forensic investigation of sudden cardiac death.
Oliva A et al.
The American Journal of Forensic Medicine and Pathology, 2011
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
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 SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do?
Skinner JR et al.
Heart Rhythm, 2010
Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific?
Makita N
Circulation Journal : Official Journal of the Japanese Circulation Society, 2009
Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.
Turillazzi E et al.
Virchows Archiv : an International Journal of Pathology, 2008
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.
Darbar D et al.
Circulation, 2008
Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.
Remme CA et al.
Trends in Cardiovascular Medicine, 2008
Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a.
Hesse M et al.
Cardiovascular Research, 2007
Role of sodium channels in propagation in heart muscle: how subtle genetic alterations result in major arrhythmic disorders.
Terrenoire C et al.
Journal of Cardiovascular Electrophysiology, 2007