Area of research
Immunology · Genetics
Research interest
Research interests include Immune Cell Function and Interaction, T-cell and B-cell Immunology, Occupational and environmental lung diseases, and Neurogenetic and Muscular Disorders Research.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia