Associated Papers
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.
Yang J et al.
Frontiers in Physiology, 2021
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Wijeyeratne YD et al.
Circulation. Genomic and Precision Medicine, 2020
33164571 (PubMed )
Supplement: hcg-13-e002911-s001.pdf
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Hoorntje ET et al.
European Journal of Heart Failure, 2018
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
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