Associated Papers
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future 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
GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome.
Semino F et al.
Pflugers Archiv : European Journal of Physiology, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome.
Greiner AM et al.
Frontiers in Medicine, 2023
Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome.
Yuan M et al.
Frontiers in Cardiovascular Medicine, 2021
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Campuzano O et al.
Human Mutation, 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
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
Regulation of Cardiac Voltage-Gated Sodium Channel by Kinases: Roles of Protein Kinases A and C.
Aromolaran AS et al.
Handbook of Experimental Pharmacology, 2018
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
Methner DN et al.
Genome Research, 2016
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 2016
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
Mechanisms of sudden cardiac death: oxidants and metabolism.
Yang KC et al.
Circulation Research, 2015
High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
Risgaard B et al.
Clinical Genetics, 2013
Post-translational modifications of the cardiac Na channel: contribution of CaMKII-dependent phosphorylation to acquired arrhythmias.
Herren AW et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2013
Channelopathies from mutations in the cardiac sodium channel protein complex.
Adsit GS et al.
Journal of Molecular and Cellular Cardiology, 2013
Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: the multiple pool model.
Shy D et al.
Biochimica Et Biophysica Acta, 2013
The genetic component of Brugada syndrome.
Nielsen MW et al.
Frontiers in Physiology, 2013
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
Biology of cardiac sodium channel Nav1.5 expression.
Rook MB et al.
Cardiovascular Research, 2012
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
Reactive oxygen species originating from mitochondria regulate the cardiac sodium channel.
Liu M et al.
Circulation Research, 2010
Cardiac Na+ current regulation by pyridine nucleotides.
Liu M et al.
Circulation Research, 2009
Cardiac metabolic state and Brugada syndrome: a link revealed.
Chahine M
Circulation Research, 2009
GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.
Valdivia CR et al.
American Journal of Physiology. Heart and Circulatory Physiology, 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
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.
London B et al.
Circulation, 2007
[Structure, function and regulation of voltage-gated sodium channel].
Okamura Y
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1997