Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome.
Greiner AM et al.
Frontiers in Medicine, 2023
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 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
Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
Tester DJ et al.
Journal of the American College of Cardiology, 2018
Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death.
Huang H et al.
Journal of Cellular and Molecular Medicine, 2018
Cardiac channelopathies: The role of sodium channel mutations.
Fonseca DJ et al.
Revista Portuguesa De Cardiologia, 2018
Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis.
Willis BC et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2015
Diseases caused by mutations in Nav1.5 interacting proteins.
Kyle JW et al.
Cardiac Electrophysiology Clinics, 2014
Arrhythmogenesis in Brugada syndrome: impact and constrains of current concepts.
Bébarová M
International Journal of Cardiology, 2013
Channelopathies from mutations in the cardiac sodium channel protein complex.
Adsit GS et al.
Journal of Molecular and Cellular Cardiology, 2013
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Cardiac ion channel mutations in the sudden infant death syndrome.
Klaver EC et al.
International Journal of Cardiology, 2011
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
Cardiac metabolic state and Brugada syndrome: a link revealed.
Chahine M
Circulation Research, 2009
The genetic basis of Brugada syndrome: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.
Van Norstrand DW et al.
Circulation, 2007