Associated Papers
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.
Shah RA et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
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
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
Characterization of the novel heterozygous SCN5A genetic variant Y739D associated with Brugada syndrome.
Zaytseva AK et al.
Biochemistry and Biophysics Reports, 2022
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
SCN5A mutation G615E results in NaV1.5 voltage-gated sodium channels with normal voltage-dependent function yet loss of mechanosensitivity.
Strege PR et al.
Channels (austin, Tex.), 2019
Cytoplasmic TDP-43 De-mixing Independent of Stress Granules Drives Inhibition of Nuclear Import, Loss of Nuclear TDP-43, and Cell Death.
Gasset-Rosa F et al.
Neuron, 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
Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.
Strege PR et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2018
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Ion channelopathies in functional GI disorders.
Beyder A et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2016
Mutational analysis of SCN5A gene in long QT syndrome.
Qureshi SF et al.
Meta Gene, 2015
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
The role of the SCN5A-encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders.
Verstraelen TE et al.
Neurogastroenterology and Motility, 2015
An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.
Nikulina SY et al.
Genetic Testing and Molecular Biomarkers, 2015
Genetics of human gastrointestinal sensation.
Camilleri M
Neurogastroenterology and Motility, 2013
Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block.
Park HS et al.
Genomics & Informatics, 2012
Irritable bowel syndrome: methods, mechanisms, and pathophysiology. Genetic epidemiology and pharmacogenetics in irritable bowel syndrome.
Camilleri M et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2012
The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study.
Jung KT et al.
Journal of Neurogastroenterology and Motility, 2012
Mechanosensitivity of Nav1.5, a voltage-sensitive sodium channel.
Beyder A et al.
The Journal of Physiology, 2010
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Genetic approaches to functional gastrointestinal disorders.
Saito YA et al.
Gastroenterology, 2010
Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.
Camilleri M
Digestive Diseases and Sciences, 2009
Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.
Saito YA et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2009
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
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Modell SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Inherited disorders of voltage-gated sodium channels.
George AL
The Journal of Clinical Investigation, 2005
Mechanisms of inherited cardiac conduction disease.
Smits JP et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2005
Genetics of atrioventricular conduction disease in humans.
Benson DW
The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology, 2004
Genetic control of sodium channel function.
Tan HL et al.
Cardiovascular Research, 2003
Brugada syndrome: in search of a genotype-phenotype relationship.
Smits JP et al.
Herzschrittmachertherapie & Elektrophysiologie, 2002
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.
Wang DW et al.
Circulation, 2002
Clinical aspects and physiopathology of Brugada syndrome: review of current concepts.
Herbert E et al.
Canadian Journal of Physiology and Pharmacology, 0
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0