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
Influence of genetic mutations to atria vulnerability to atrial fibrillation: An in-silico 3D human atria study.
Belletti R et al.
Computer Methods and Programs in Biomedicine, 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
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
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
Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.
Belletti R et al.
Frontiers in Physiology, 2021
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.
Bu H et al.
Molecular Medicine Reports, 2019
Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.
Hayashi K 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
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
Jou CJ et al.
Circulation Research, 2013
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
Anderson CL et al.
Circulation, 2006
Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.
Moss AJ et al.
Circulation, 2002
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Low penetrance in the long-QT syndrome: clinical impact.
Priori SG et al.
Circulation, 1999