Area of research
Molecular Biology · Epidemiology
Research interest
Research interests include Congenital heart defects research, Congenital Heart Disease Studies, Genomics and Rare Diseases, and Tracheal and airway disorders.
A validated heart-specific model for splice-disrupting variants in childhood heart disease
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries
‘Big issues’ in neurodevelopment for children and adults with congenital heart disease
Management of People With a Fontan Circulation: a Cardiac Society of Australia and New Zealand Position statement
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
Advances in the Genetics of Congenital Heart Disease
A Universal and Robust Integrated Platform for the Scalable Production of Human Cardiomyocytes From Pluripotent Stem Cells
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease