Area of research
Pediatrics, Perinatology and Child Health · Genetics
Research interest
Research interests include Birth, Development, and Health, Health, Environment, Cognitive Aging, Genetic Associations and Epidemiology, and Genomics and Rare Diseases.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data
Calculating statistical power in Mendelian randomization studies
Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5–CHRNA3–CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight