Associated Papers
Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.
Nademanee K et al.
Journal of Arrhythmia, 2026
Brugada Syndrome: an exemplar for the genomic basis of sudden death.
Griffiths RLM et al.
European Journal of Human Genetics : Ejhg, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
Clinical Features of Brugada Syndrome Patients With SCN5A Variants.
Okamura S et al.
Journal of Cardiovascular Electrophysiology, 2025
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R et al.
Circulation, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Case Report: Lacosamide unmasking SCN5A-associated Brugada syndrome in a young female with epilepsy.
Shen YC et al.
Frontiers in Cardiovascular Medicine, 2024
In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.
Pham HM et al.
Molecular Genetics & Genomic Medicine, 2023
Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
Tarantino A et al.
International Journal of Molecular Sciences, 2023
A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population.
Mauleekoonphairoj J et al.
Scientific Reports, 2023
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 2023
Rare Compound Heterozygous Missense Mutation of the SCN5A Gene with Childhood-Onset Sick Sinus Syndrome in Two Chinese Sisters.
Wang Y et al.
International Heart Journal, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen J et al.
Orphanet Journal of Rare Diseases, 2022
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.
Yamane H et al.
International Heart Journal, 2022
Brugada Syndrome: New Insights From Cardiac Magnetic Resonance and Electroanatomical Imaging.
Pappone C et al.
Circulation. Arrhythmia and Electrophysiology, 2021
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
Clinical Characteristics of SCN5A p.R965C Carriers: A Common Founder Variant Predisposing to Brugada Syndrome in Thailand.
Chimparlee N et al.
Circulation. Genomic and Precision Medicine, 2021
Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia.
Lin Y et al.
Molecular Genetics & Genomic Medicine, 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
Common and rare susceptibility genetic variants predisposing to Brugada syndrome in Thailand.
Makarawate P et al.
Heart Rhythm, 2020
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.
Tse G et al.
Frontiers in Physiology, 2020
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives.
Mak CM et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2019
Systematic re-evaluation of SCN5A variants associated with Brugada syndrome.
Denham NC et al.
Journal of Cardiovascular Electrophysiology, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.
Kroncke BM et al.
Circulation. Genomic and Precision Medicine, 2018