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David R Thorburn

32PUBLICATIONS
212CO-AUTHORS
Evolutionary computationEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Medical biotechnology diagnostics (incl. biosensors)Gene mapping
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Journal

Publications (32)

Sort by Publication Date:
|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

|Aug 15, 2025
Complex II assembly drives metabolic adaptation to OXPHOS dysfunction.

Roopasingam Kugapreethan, Sheik Nadeem Elahee Doomun, Joanna Sacharz

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Frequent Collaborators

19 joint publications

John Christodoulou

13 joint publications

Alison G Compton

10 joint publications

David A Stroud

10 joint publications

Rocio Rius

7 joint publications

Ann E Frazier

6 joint publications

Sebastian Lunke

6 joint publications

Zornitza Stark

6 joint publications

Cas Simons

4 joint publications

Michael T Ryan

4 joint publications

Tiong Yang Tan

Frequent Collaborators

19 joint publications

John Christodoulou

13 joint publications

Alison G Compton

10 joint publications

David A Stroud

10 joint publications

Rocio Rius