Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.
Murphy J et al.
Irish Journal of Medical Science, 2024
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy.
Righi D et al.
Pediatric Cardiology, 2023
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Votýpka P et al.
International Journal of Legal Medicine, 2023
Estimating the probability of early afterdepolarizations and predicting arrhythmic risk associated with long QT syndrome type 1 mutations.
Jin Q et al.
Biophysical Journal, 2023
Gene- and variant-specific efficacy of serum/glucocorticoid-regulated kinase 1 inhibition in long QT syndrome types 1 and 2.
Giannetti F et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2023
Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development.
Liu Z et al.
Seminars in Perinatology, 2023
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Cava F et al.
Frontiers in Cardiovascular Medicine, 2023
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Song Y et al.
Frontiers in Cardiovascular Medicine, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Association of the P441L KCNQ1 variant with severity of long QT syndrome and risk of cardiac events.
Lu H et al.
Frontiers in Cardiovascular Medicine, 2022
Genomic Autopsy of Sudden Deaths in Young Individuals.
Webster G et al.
Jama Cardiology, 2021
Cardiac microtissues from human pluripotent stem cells recapitulate the phenotype of long-QT syndrome.
Giacomelli E et al.
Biochemical and Biophysical Research Communications, 2021
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 2021
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report.
Cava F et al.
Molecular Genetics and Metabolism Reports, 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
Use of hiPSC-Derived Cardiomyocytes to Rule Out Proarrhythmic Effects of Drugs: The Case of Hydroxychloroquine in COVID-19.
Sala L et al.
Frontiers in Physiology, 2021
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.
Ormondroyd E et al.
European Journal of Human Genetics : Ejhg, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.
Strand S et al.
Circulation. Arrhythmia and Electrophysiology, 2020
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
Beyond Family: Modeling Non-hereditary Heart Diseases With Human Pluripotent Stem Cell-Derived Cardiomyocytes.
Martewicz S et al.
Frontiers in Physiology, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation.
Mura M et al.
Stem Cell Research, 2019
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Large-Scale Simulation of the Phenotypical Variability Induced by Loss-of-Function Long QT Mutations in Human Induced Pluripotent Stem Cell Cardiomyocytes.
Paci M et al.
International Journal of Molecular Sciences, 2018
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.
Mura M et al.
Stem Cell Research, 2018
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.
Huttunen H et al.
Frontiers in Endocrinology, 2018
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.
Giacomelli E et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Li B et al.
Circulation. Cardiovascular Genetics, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016