Fields of Research

Ophthalmology
Medical genetics (excl. cancer genetics)
Respiratory diseases
Haematological tumours
Genomics
Cancer genetics

Research Objectives

Clinical health
Diagnosis of human diseases and conditions
Treatment of human diseases and conditions

Career Best Publications

Research Publications

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus; Communications Biology
Association of genetic variation with keratoconus; JAMA Ophthalmology
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases; Nature Communications
Genetic and environmental risk factors for keratoconus; Annual Review of Vision Science
Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka; Molecular Genetics & Genomic Medicine
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)
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness; Human Molecular Genetics

Research Projects

Genetic Research in Idiopathic Pulmonary Fibrosis (GRIPF) Study: A case-control cohort enriched for genetic disease; Perpetual Trustees (PT)

Research Candidate Supervision