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
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
Modeling mutation-specific arrhythmogenic phenotypes in isogenic human iPSC-derived cardiac tissues.
Maurissen TL et al.
Scientific Reports, 2024
Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) for modeling cardiac arrhythmias: strengths, challenges and potential solutions.
Joshi J et al.
Frontiers in Physiology, 2024
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
STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.
Blanch-Asensio A et al.
Cell Reports Methods, 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
Synergistic gene editing in human iPS cells via cell cycle and DNA repair modulation.
Maurissen TL et al.
Nature Communications, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
Giudicessi JR et al.
Circulation. Cardiovascular Genetics, 2012
Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.
Lian J et al.
The Canadian Journal of Cardiology, 2010
The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells.
Huo J et al.
Pflugers Archiv : European Journal of Physiology, 2008
Clinical and molecular genetics of the short QT syndrome.
Schimpf R et al.
Current Opinion in Cardiology, 2008
Effect of S5P alpha-helix charge mutants on inactivation of hERG K+ channels.
Clarke CE et al.
The Journal of Physiology, 2006
Modulation of I(Kr) inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome.
Cordeiro JM et al.
Cardiovascular Research, 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
Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.
Khositseth A et al.
Heart Rhythm, 2004
Congenital short QT syndrome.
Antzelevitch C et al.
Indian Pacing and Electrophysiology Journal, 2004
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ et al.
Human Mutation, 1999