Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, BRCA gene mutations in cancer, RNA Research and Splicing, and Retinal Development and Disorders.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing
Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency