Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM6_ESM.xlsx › Sheet1
Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome.
Yuan M et al.
Frontiers in Cardiovascular Medicine, 2021
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant - Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping.
Van Malderen SCH et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2017
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
Millat G et al.
Molecular Diagnosis & Therapy, 2014
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
García-Molina E et al.
Clinical Genetics, 2013
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.
Millat G et al.
Clinical Biochemistry, 2009
Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
Maekawa K et al.
Annals of Human Genetics, 2005
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
Rossenbacker T et al.
Journal of Medical Genetics, 2005
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