Area of research
Genetics · Clinical Biochemistry
Research interest
Research interests include Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, and Genetics and Neurodevelopmental Disorders.
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Genomic Screening Consortium for Australian Newborns (<scp>GenSCAN</scp>)
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
<scp><i>GABRA1</i></scp>‐Related Disorders: From Genetic to Functional Pathways
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing
Guidelines for the genetic diagnosis of hereditary recurrent fevers