Associated Papers
Role of non-coding variants in cardiovascular disease.
Heshmatzad K et al.
Journal of Cellular and Molecular Medicine, 2023
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
O'Neill MJ et al.
Circulation. Genomic and Precision Medicine, 2022
Disrupted minor intron splicing is prevalent in Mendelian disorders.
Olthof AM et al.
Molecular Genetics & Genomic Medicine, 2020
32573973 (PubMed )
Supplement: MGG3-8-e1374-s003.xlsx › Sheet1
Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.
Marcondes L et al.
Plos One, 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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