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
High-throughput screens identify genotype-specific therapeutics for channelopathies.
Egly CL et al.
Jci Insight, 2025
41026531 (PubMed )
Supplement: jciinsight-10-191697-s190.xlsx › Figure_6B
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
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
36860515 (PubMed )
Supplement: Table1.XLSX › missense_variants
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.
Ganz J et al.
Cancer Discovery, 2022
34389641 (PubMed )
Supplement: cd-21-0245_table_s2_suppst2.xlsx › BrainVar-COSMIC__C_
C-Linker Accounts for Differential Sensitivity of ERG1 and ERG2 K+ Channels to RPR260243-Induced Slow Deactivation.
Gardner A et al.
Molecular Pharmacology, 2015
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance.
Steffensen AB et al.
Scientific Reports, 2015
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
23631430 (PubMed )
Supplement: sj-doc-1-gtm-10.1089_gtmb.2012.0118.doc
Genetic background and clinical phenotype in a Vietnamese cohort with Brugada syndrome: A whole exome sequencing study.
Tran VT et al.
Jrsm Cardiovascular Disease, 0
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