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
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
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
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
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
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
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
Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.
Zhang Y et al.
Physiological Reports, 2020
Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.
Coto E et al.
Epigenomics, 2017
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
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.
Mechakra A et al.
Gene, 2014
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
Long QT syndrome in South Africa: the results of comprehensive genetic screening.
Hedley PL et al.
Cardiovascular Journal of Africa, 2013
An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management.
Tisma-Dupanovic S et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2013
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Stattin EL et al.
Bmc Cardiovascular Disorders, 2012
Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.
Visscher H et al.
Journal of Cardiovascular Pharmacology, 2011
Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.
Oka Y et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2010
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles.
Hayashi K et al.
Heart Rhythm, 2010
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.
Chevalier P et al.
Heart Rhythm, 2007
Genetic polymorphisms and arrhythmia susceptibility.
Makita N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
Millat G et al.
Clinical Genetics, 2006
Acute respiratory distress syndrome with transiently impaired left ventricular function and Torsades de Pointes arrhythmia unmasking congenital long QT syndrome in a 25-yr-old woman.
Hinterseer M et al.
British Journal of Anaesthesia, 2006
Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome.
Grunnet M et al.
Heart Rhythm, 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
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
Paulussen AD et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Non-invasive testing of acquired long QT syndrome: evidence for multiple arrhythmogenic substrates.
Chevalier P et al.
Cardiovascular Research, 2001