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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
HGG Advances|July 7, 2025
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart diseaseDimuthu Alankarage, Iryna Leshchynska, Stephanie Portelli, et al.
Human Molecular Genetics|December 10, 2019
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variantsGavin Chapman, Julie L M Moreau, Eddie I P, et al.
Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.
American Journal of Human Genetics|September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart diseaseRachel Soemedi, Ian J Wilson, Jamie Bentham, et al.
Heart, Lung & Circulation|November 19, 2019
Management of People With a Fontan Circulation: a Cardiac Society of Australia and New Zealand Position statementDominica Zentner, David S Celermajer, Thomas Gentles, et al.
Genetics in Medicine Open|December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipRachel Austin, Jaye S Brown, Sarah Casauria, et al.
Circulation Research|December 10, 2021
Common Genetic Variants Contribute to Risk of Transposition of the Great ArteriesDoris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, et al.
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