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_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.
d'Apolito M et al.
Genes, 2024
39062601 (PubMed )
Supplement: genes-15-00822-s001.zip › genes-3033278-supplementary.pdf
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
Leong IUS et al.
Medical Sciences (basel, Switzerland), 2017
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction.
Boehringer T et al.
Molecular Medicine Reports, 2014
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
García-Molina E et al.
Clinical Genetics, 2013
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
Rossenbacker T et al.
Journal of Medical Genetics, 2005
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
Paulussen AD et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.
Ackerman MJ et al.
Jama, 2001
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