Associated Papers
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
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 › S13
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma.
Parsam VL et al.
Journal of Genetics, 2009
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