Fields of Research

Genomics
Nephrology and urology
Medical genetics (excl. cancer genetics)
Infant and child health
Neurogenetics
Neurology and neuromuscular diseases
Genetics
Central nervous system
Cancer genetics
Ophthalmology
People with disability
Cancer diagnosis
Health counselling

Research Objectives

Diagnosis of human diseases and conditions
Clinical health
Expanding knowledge in the biological sciences
Neonatal and child health
Expanding knowledge in the biomedical and clinical sciences
Treatment of human diseases and conditions
Expanding knowledge in the health sciences
Health inequalities

Career Best Publications

Research Publications

Clinical impact of genomic testing in patients with suspected monogenic kidney disease; Genetics in Medicine
Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition; Practical Neurology
Genetic kidney disease in southern Tasmania; Kidney international reports
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome; American Journal of Human Genetics
Loss of TOP3B leads to increased R-loop formation and genome instability; Open Biology
Lymphedema distichiasis syndrome may be caused by FOXC2 promoter-enhancer dissociation and disruption of a topological associated domain; American Journal of Medical Genetics. Part A
Paediatric genomic testing: Navigating medicare rebatable genomic testing; Journal of Paediatrics and Child Health
Prospective evaluation of the utility of whole exome sequencing in dilated cardiomyopathy; American Heart Association. Journal. Cardiovascular and Cerebrovascular Disease
Rapid diagnosis of spinocerebellar ataxia 36 in a three-generation family using short-read whole-genome sequencing data; Movement Disorders
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective; Journal of the Neurological Sciences

Research Projects

Assay development to improve genetic testing in cataract patients with gap junction variants ; Royal Hobart Hospital Research Foundation (RHHRF)

Research Candidate Supervision