Area of research
Genetics · Molecular Biology
Research interest
Research focused on Genetics and Breast cancer, with related work in Penetrance, Trinucleotide repeat expansion, Disease. Notable publications include 'An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14', 'Integrated multi-omics for rapid rare disease diagnosis on a national scale', and 'Heritable DNA methylation marks associated with susceptibility to breast cancer'.
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Cancer Risks Associated With <i>TP53</i> Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years
Genomic Testing in Patients with Kidney Failure of an Unknown Cause
Integrated multi-omics for rapid rare disease diagnosis on a national scale
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Heritable DNA methylation marks associated with susceptibility to breast cancer
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling