Fields of Research

Statistical and quantitative genetics
Neurogenetics
Central nervous system
Medical genetics (excl. cancer genetics)
Cellular nervous system
Genomics
Ophthalmology
Genomics and transcriptomics
Cancer cell biology
Cancer genetics
Haematology
Gene expression (incl. microarray and other genome-wide approaches)
Animal immunology
Endocrinology
Cardiology (incl. cardiovascular diseases)
Animal cell and molecular biology
Neurology and neuromuscular diseases

Research Objectives

Clinical health
Expanding knowledge in the biological sciences
Expanding knowledge in the biomedical and clinical sciences
Diagnosis of human diseases and conditions
Evaluation of health outcomes
Marine biodiversity
Overweight and obesity
Control of pests, diseases and exotic species in terrestrial environments
Prevention of human diseases and conditions
Health related to ageing
Treatment of human diseases and conditions

Career Best Publications

Comparative analysis of immune checkpoint molecules and their potential role in the transmissible Tasmanian Devil facial tumor disease; Frontiers in Immunology
Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies; Blood
Identifying the lipidomic effects of a rare loss-of-function deletion in ANGPTL3; Circulation. Genomic and Precision Medicine
Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours; Scientific Reports
Mesenchymal plasticity of devil facial tumour cells during in vivo vaccine and immunotherapy trials; Immunology and Cell Biology
Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent; Investigative Ophthalmology and Visual Science (Iovs)
Transcriptomic profiling of fibropapillomatosis in green sea turtles (Chelonia mydas) from south Texas; Frontiers in Immunology

Research Publications

A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study; Oncology Reports
Abdominal obesity and brain atrophy in type 2 diabetes mellitus; PLoS One
Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition; JAMA Psychiatry
Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan; Diabetologia
Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis; Neurological Sciences
Comparative analysis of immune checkpoint molecules and their potential role in the transmissible Tasmanian Devil facial tumor disease; Frontiers in Immunology
Does metallothionein attenuate mutant SOD1 aggregation in MND; 22nd Symposium on ALS/MND
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia; Molecular Psychiatry
Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies; Blood
Generation and characterisation of four multiple sclerosis iPSC lines from a single family; Stem Cell Research
Genome-wide linkage scan for loci influencing plasma triglyceride levels; BMC Proceedings
Genotype phasing in pedigrees using whole-genome sequence data; European Journal of Human Genetics
Glycated serum protein genetics and pleiotropy with cardiometabolic risk factors; Journal of Diabetes Research
Heritability and genetic associations of triglyceride and HDL-C levels using pedigree-based and empirical kinships; BMC Proceedings
Identifying the lipidomic effects of a rare loss-of-function deletion in ANGPTL3; Circulation. Genomic and Precision Medicine
Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours; Scientific Reports
Massively parallel sequencing in hereditary prostate cancer families reveals a rare risk variant in the DNA repair gene, RAD51C; European Journal of Cancer
Mesenchymal plasticity of devil facial tumour cells during in vivo vaccine and immunotherapy trials; Immunology and Cell Biology
Molecular characterization of a marine turtle tumor epizootic, profiling external, internal and postsurgical regrowth tumors; Communications Biology
Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease; Scientific Reports
Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway; Journal of Lipid Research
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent; PLoS One
Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent; Investigative Ophthalmology and Visual Science (Iovs)
Rediscovering the value of families for psychiatric genetics research; Molecular Psychiatry
Reliability of genomic predictions of complex human phenotypes; BMC Proceedings
RNA-seq profiling of a radiation resistant and radiation sensitive prostate cancer cell line highlights opposing regulation of DNA repair and targets for radiosensitization; BMC Cancer
The prevalence of glaucoma in the Jirel Ethnic Group of Nepal; Frontiers in Ophthalmology
Transcriptomic profiling of fibropapillomatosis in green sea turtles (Chelonia mydas) from south Texas; Frontiers in Immunology
Using MS induced pluripotent stem cells to investigate MS aetiology; Multiple Sclerosis and Related Disorders

Research Projects

How does rare genetic variation contribute to the development of Multiple Sclerosis?; Multiple Sclerosis Australia (MSA)
Old brain cells perform new tricks to allow life-long learning; Australian Research Council (ARC)

Research Candidate Supervision