Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.
Hammer-Hansen S et al.
European Journal of Human Genetics : Ejhg, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
39669597 (PubMed )
Supplement: mmc2.xlsx › Supp_tab_6
A novel association between sinus node dysfunction and an SCN5A variant presenting as persistent symptomatic bradycardia in a young adult.
Kisling A et al.
Heartrhythm Case Reports, 2023
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y et al.
Journal of Personalized Medicine, 2022
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 › S3
Gender difference in clinical and genetic characteristics of Brugada syndrome: SADS-TW BrS registry.
Chen CJ et al.
Qjm : Monthly Journal of the Association of Physicians, 2019
Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.
Robyns T et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2018
Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.
Chiang DY et al.
Circulation. Arrhythmia and Electrophysiology, 2015
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M et al.
Bmc Medical Genetics, 2014
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
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