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
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
O'Neill MJ et al.
Circulation. Genomic and Precision 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 › S4
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.
Frisso G et al.
International Journal of Molecular Sciences, 2016
27834932 (PubMed )
Supplement: ijms-17-01883-s001.pdf
Long QT syndrome: beyond the causal mutation.
Amin AS et al.
The Journal of Physiology, 2013
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Amin AS et al.
European Heart Journal, 2012
22199116 (PubMed )
Supplement: supp_ehr473_ehr473supp.doc
alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.
Wu G et al.
Circulation. Arrhythmia and Electrophysiology, 2008
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ et al.
Circulation, 2007
Heritability in genetic heart disease: the role of genetic background.
Jansweijer JA et al.
Open Heart, 0
31245010 (PubMed )
Supplement: openhrt-2018-000929supp001.pdf
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