Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy.
Righi D et al.
Pediatric Cardiology, 2023
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
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Fatty acid analogue N-arachidonoyl taurine restores function of IKs channels with diverse long QT mutations.
Liin SI et al.
Elife, 2016
The UK10K project identifies rare variants in health and disease.
Walter K et al.
Nature, 2015
The genetics of pro-arrhythmic adverse drug reactions.
Petropoulou E et al.
British Journal of Clinical Pharmacology, 2014
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M et al.
Bmc Medical Genetics, 2014
Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.
Visscher H et al.
Journal of Cardiovascular Pharmacology, 2011
PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation.
Ren J et al.
Molecular & Cellular Proteomics : Mcp, 2010
The human ERG1 channel polymorphism, K897T, creates a phosphorylation site that inhibits channel activity.
Gentile S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Pharmacogenetics of drug-induced arrhythmias.
Abbott GW et al.
Expert Review of Clinical Pharmacology, 2008
Genetic polymorphisms and arrhythmia susceptibility.
Makita N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 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
Genetic susceptibility to acquired long QT syndrome: pharmacologic challenge in first-degree relatives.
Kannankeril PJ et al.
Heart Rhythm, 2005
A structural requirement for processing the cardiac K+ channel KCNQ1.
Kanki H et al.
The Journal of Biological Chemistry, 2004
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
Paulussen AD et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
Ackerman MJ et al.
Mayo Clinic Proceedings, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000