Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2
GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes.
Draelos RL et al.
Circulation. Arrhythmia and Electrophysiology, 2022
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
Kojima T et al.
Disease Models & Mechanisms, 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
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S12
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › EVERYTHING
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
Recapitulating long-QT syndrome using induced pluripotent stem cell technology.
Dirschinger RJ et al.
Pediatric Cardiology, 2012
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Norton N et al.
Circulation. Cardiovascular Genetics, 2012
Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1.
Thomas D et al.
Journal of Molecular and Cellular Cardiology, 2010
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ et al.
Circulation, 2007
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