Area of research
Genetics · Psychiatry and Mental health
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, and Genomic variations and chromosomal abnormalities.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies
<i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
Phenotypic insights into <i>ADCY5</i>‐associated disease