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
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
Dual receptor-sites reveal the structural basis for hyperactivation of sodium channels by poison-dart toxin batrachotoxin.
Tonggu L et al.
Nature Communications, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 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
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Ishikawa T et al.
European Heart Journal, 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
Characterization of an N-terminal Nav1.5 channel variant - a potential risk factor for arrhythmias and sudden death?
Scheiper-Welling S et al.
Bmc Medical Genetics, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
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
Is Symptomatic Long QT Syndrome Associated with Depression in Women and Men?
Wesołowska K et al.
Journal of Genetic Counseling, 2017
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD et al.
Circulation. Cardiovascular Genetics, 2015
Determining the pathogenicity of genetic variants associated with cardiac channelopathies.
Campuzano O et al.
Scientific Reports, 2015
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
Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.
Gütter C et al.
Frontiers in Physiology, 2013
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese.
Liang P et al.
Journal of Cardiovascular Disease Research, 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
Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.
Medeiros-Domingo A et al.
Heart Rhythm, 2009
In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant.
Lin MT et al.
Heart Rhythm, 2008
Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity.
Levy-Nissenbaum E et al.
Genetic Testing, 2001
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0