Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC 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, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.
Liu H et al.
Pacing and Clinical Electrophysiology : Pace, 2025
Demographics, Clinical Features and Genetics of Common Inherited Arrhythmias in Oman.
Al Azri K et al.
Journal of the Saudi Heart Association, 2025
The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.
Bukaeva A et al.
International Journal of Molecular Sciences, 2024
Torsades de Pointes electrical storm in children with KCNH2 mutations.
Zhang L et al.
Bmc Medical Genomics, 2024
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
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
Mechanisms of fever-induced QT prolongation and torsades de pointes in patients with KCNH2 mutation.
Usuda K 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
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
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
Disruption of protein quality control of the human ether-à-go-go related gene K+ channel results in profound long QT syndrome.
Ledford HA et al.
Heart Rhythm, 2022
Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation.
Sun H et al.
Frontiers in Genetics, 2022
Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.
Caiffa T et al.
Frontiers in Pediatrics, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes.
Nakajima T et al.
International Journal of Molecular Sciences, 2021
Mexiletine Shortened QT Interval and Reduced Ventricular Arrhythmias in a Pedigree of Type 2 Long QT Syndrome Combined with Left Ventricular Non-Compaction.
Xu B et al.
International Heart Journal, 2021
Maternal mosaicism in long QT syndrome due to a pathogenic variant in KCNH2.
Sawyer BL et al.
Heartrhythm Case 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
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
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing.
Li X et al.
Annals of Human Genetics, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
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
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis NS et al.
Journal of Biological Research (thessalonike, Greece), 2017
Video-Assisted Thoracoscopic Left Cardiac Sympathetic Denervation in Patients with Hereditary Ventricular Arrhythmias.
Jang SY et al.
Pacing and Clinical Electrophysiology : Pace, 2017
Successful prenatal management of ventricular tachycardia and second-degree atrioventricular block in fetal long QT syndrome.
Miyake A et al.
Heartrhythm Case Reports, 2017
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
Comorbid Epilepsy and Developmental Disorders in Congenital Long QT Syndrome With Life-Threatening Perinatal Arrhythmias.
Miyazaki A et al.
Jacc. Clinical Electrophysiology, 2016
The Mutation P.T613a in the Pore Helix of the Kv 11.1 Potassium Channel is Associated with Long QT Syndrome.
Poulsen KL et al.
Pacing and Clinical Electrophysiology : Pace, 2015
Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.
Koponen M et al.
Circulation. Arrhythmia and Electrophysiology, 2015
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Li MH et al.
Human Genomics, 2015
Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
Riuró H et al.
European Journal of Human Genetics : Ejhg, 2015
Clinical spectrum of fetal long QT syndrome: a single-center experience.
Flöck A et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2015
Unveiling specific triggers and precipitating factors for fatal cardiac events in inherited arrhythmia syndromes.
Nakajima T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing.
Priest JR et al.
Heart Rhythm, 2014