Genomes and Genes

Species

Richard D Bagnall

Summary

Affiliation: Centenary Institute
Country: Australia

Publications

  1. Yeates L, Gen Couns G, Ingles J, Gray B, Singarayar S, Sy R, et al. A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death. Heart Rhythm. 2018;: pubmed publisher
    ..Genome sequencing can identify rare chromosomal aberrations causing inherited diseases that may otherwise be missed using gene panel and exome sequencing-based approaches. ..
  2. Bagnall R, Molloy L, Kalman J, Semsarian C. Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. BMC Med Genet. 2014;15:99 pubmed publisher
    ..The diverse mechanistic roles of ACTN2 in the cardiac Z-disc may explain this heterogeneous clinical presentation. Exome sequencing is a useful adjunct to cardiac genetic testing in families with mixed clinical presentations. ..