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
Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.
Clasper S et al.
Circulation. Genomic and Precision Medicine, 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
Assessment of Severity of Long QT Syndrome Phenotype and Risk of Fetal Death.
Albertini L et al.
Journal of the American Heart Association, 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
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
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
Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.
Zhang Y et al.
Physiological Reports, 2020
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.
Johnson JN et al.
Neurology, 2009
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005