0000-0002-6374-5224 Employment
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Queensland Health Clinical Geneticist2013 - Present
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (99)
- Automated reanalysis of genomic data for rare disease diagnostics at scale. Save
- Exploring the therapeutic response to sodium-glucose cotransporter-2 inhibition in INSR-related insulin resistance monogenic diabetes: case-based analysis and narrative review Save
- Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy. Save
- GENEKIDS-PRO: genomic enhancement and patient engagement in nephrology through multidisciplinary kidney genetics clinic implementation and integration in Singapore - a study protocol using a process evaluation framework. Save
- Scoping Review of Global Kidney Genetics Clinic Models and Outcomes. Save
- KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity. Save
- Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation. Save
- PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development Save
- A Pilot Study of Pharmacogenomics in Patients With Kidney Failure of an Unknown Cause. Save
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome Save