Associated Papers
Prevalence, spectrum, and outcomes in patients with nonpenetrant long QT syndrome.
Rudquist EV et al.
Heart Rhythm, 2026
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
Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.
Chamoieva A et al.
Journal of Personalized Medicine, 2026
Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.
Ambroziak M et al.
International Journal of Molecular Sciences, 2025
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
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
Correction: "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 2024
Performance of a Protein Language Model for Variant Annotation in Cardiac Disease.
Hochstadt A et al.
Journal of the American Heart Association, 2024
"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 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
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Postmortem genetic testing in sudden unexplained death: A public health laboratory experience.
Rohrer CT et al.
Journal of Forensic Sciences, 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
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Copier JS et al.
Human Molecular Genetics, 2023
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
Martinez-Barrios E et al.
International Journal of Legal Medicine, 2023
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 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
Robotic bilateral cardiac sympathetic denervation in a patient with severe long QT syndrome: First experience in Poland.
Suwalski P et al.
Kardiologia Polska, 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
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
Zaklyazminskaya E et al.
Genes, 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
A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.
Oliveira-Mendes B et al.
Clinical and Translational Medicine, 2021
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.
Kozek K et al.
Circulation. Genomic and Precision Medicine, 2021
Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precision medicine.
Pan Z et al.
Pflugers Archiv : European Journal of Physiology, 2021
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 2021
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.
Soh MS et al.
Annals of Clinical and Translational Neurology, 2021
hERG-deficient human embryonic stem cell-derived cardiomyocytes for modelling QT prolongation.
Chang Y et al.
Stem Cell Research & Therapy, 2021
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
Vatta M et al.
Circulation. Genomic and Precision Medicine, 2021
Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis.
An JY et al.
Genes, 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
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
Kolokotronis K et al.
Journal of Clinical Medicine, 2020
Epidemiology of inherited arrhythmias.
Offerhaus JA et al.
Nature Reviews. Cardiology, 2020
Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.
Nakao S et al.
European Cardiology, 2020
The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.
Pourrier M et al.
International Journal of Molecular Sciences, 2020
Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.
Chahal CAA et al.
Journal of the American Heart Association, 2020