Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Mitochondrial Function and Pathology, RNA Research and Splicing, and Prenatal Screening and Diagnostics.
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic <i>MRPL39</i> variants as a cause of pediatric onset mitochondrial disease
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children