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
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.
O'Neill MJ et al.
Nature Communications, 2024
39333091 (PubMed )
Supplement: 41467_2024_52474_MOESM1_ESM.pdf
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.
Millat G et al.
Clinical Biochemistry, 2009
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.
Ackerman MJ et al.
Jama, 2001
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