David R Thorburn

33PUBLICATIONS
215CO-AUTHORS
Nutritional epidemiologyEvolutionary computationEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Medical biotechnology diagnostics (incl. biosensors)
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Publications (33)

|Jul 13, 2026
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.

|Jun 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scale.

|May 11, 2026
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.

|Apr 27, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.

|Feb 26, 2026
Mainstreaming genomic testing for mitochondrial disease in Australia.

Megan Ball, Naomi Baker, Sze Chern Lim

|Oct 22, 2025
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Teresa Zhao, Kirsten Allan, Juliet Taylor

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Frequent Collaborators

20 joint publications

John Christodoulou

13 joint publications

Alison G Compton

10 joint publications

David A Stroud

10 joint publications

Rocio Rius