Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
A synonymous KCNH2 polymorphism and methadone trough level influence QTc prolongation in Kelantanese Malay recipients of methadone maintenance therapy (MMT) in Malaysia.
Abdul Jalal MI et al.
Plos One, 2025
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Population-specific variations in KCNH2 predispose patients to delayed ventricular repolarization upon dihydroartemisinin-piperaquine therapy.
Camara MD et al.
Antimicrobial Agents and Chemotherapy, 2024
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA 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
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 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
Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.
Zhang C et al.
Molecular Genetics & Genomic Medicine, 2019
Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.
Foo B et al.
Scientific Reports, 2019
The population genetics of pharmacogenomics VIP variants in the Sherpa population.
Wang L et al.
Drug Metabolism and Pharmacokinetics, 2016
Clinical association between pharmacogenomics and adverse drug reactions.
Zhou ZW et al.
Drugs, 2015
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
The genetics of pro-arrhythmic adverse drug reactions.
Petropoulou E et al.
British Journal of Clinical Pharmacology, 2014
Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes.
Ramirez AH et al.
The Pharmacogenomics Journal, 2013
Current pharmacogenomic studies on hERG potassium channels.
He FZ et al.
Trends in Molecular Medicine, 2013
Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.
Visscher H et al.
Journal of Cardiovascular Pharmacology, 2011
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
Itoh H et al.
Circulation. Arrhythmia and Electrophysiology, 2009
Role of intracellular domains in the function of the herg potassium channel.
Al-Owais M et al.
European Biophysics Journal : Ebj, 2009
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
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
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
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
Yang P et al.
Circulation, 2002