Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41445606 (PubMed )
Supplement: media-2.xlsx › File_S2
Spectrum of genetic variants detected in children tested for long QT syndrome.
Kemezyte A et al.
Bmc Cardiovascular Disorders, 2025
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
Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.
Rinné S et al.
International Journal of Molecular Sciences, 2023
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
35442947 (PubMed )
Supplement: pcbi.1010038.s010.xlsx › Missense_Mutations
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 › S10
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
32383558 (PubMed )
Supplement: MGG3-8-e1300-s001.xlsx › Supplement_Tabelle
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
Kernik DC et al.
Plos Computational Biology, 2020
Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.
Samol A et al.
Plos One, 2016
Prolonged atrial action potential durations and polymorphic atrial tachyarrhythmias in patients with long QT syndrome.
Kirchhof P et al.
Journal of Cardiovascular Electrophysiology, 2003
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