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
41443252 (PubMed )
Supplement: euaf327_supplementary_data.zip › Table-S1-V2.xlsx › All_missense_variants
Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients.
Yang J et al.
Orphanet Journal of Rare Diseases, 2025
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
38219013 (PubMed )
Supplement: mmc2.xlsx › Table_S1_Variant_Controls
Base Editing of Human Pluripotent Stem Cells for Modeling Long QT Syndrome.
Wu F et al.
Stem Cell Reviews and Reports, 2022
Establishment of human embryonic stem cell WAe009-A-74 carrying a Long QT syndrome mutation in KCNH2.
Sun L et al.
Stem Cell Research, 2022
Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation.
Sun H et al.
Frontiers in Genetics, 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
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list
Base Editing Mediated Generation of Point Mutations Into Human Pluripotent Stem Cells for Modeling Disease.
Qi T et al.
Frontiers in Cell and Developmental Biology, 2020
33102492 (PubMed )
Supplement: Data_Sheet_1.docx
Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population.
Sun H et al.
Frontiers in Cardiovascular Medicine, 2020
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
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