Prof David Thorburn
Honorary (Professorial Fellow)
Department of Paediatrics
338 Scholarly works
5 Projects
HIGHLIGHTS
2026
Journal article
Antenatal Presentation of MRPS22 ‐Related Mitochondrial Disease Confirmed With Rapid Proteomics
DOI: 10.1002/jmd2.700922026
Journal article
Functional Characterization of a Novel GPC3 Missense Variant in Simpson–Golabi–Behmel Syndrome
DOI: 10.1002/ajmg.a.642872026
Journal article
Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome
DOI: 10.1016/j.scr.2025.1038952026
Journal article
Clinical proteomics in variant classification: are we there yet?
DOI: 10.1016/j.pathol.2026.01.2272026
Journal article
Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome
DOI: 10.1016/j.scr.2026.1039482026
Journal article
Mainstreaming genomic testing for mitochondrial disease in Australia
DOI: 10.1038/s41431-026-02053-62018
Research Contracts
Salary Contribution - Student Scholarship Cameron McKnight 18/21 Project Using Human Embryonic Stem Cell Models Of Mitochondrial Disease to Identify Candidate Drug Treatments
RECENT SCHOLARLY WORKS
2026
Journal article
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
DOI: 10.1016/j.ajhg.2026.03.0032025
Journal article
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
DOI: 10.1186/s13073-025-01467-z2025
Journal article
Public funding for mitochondrial donation: An Australian public deliberation
DOI: 10.1186/s12910-025-01284-42025
Journal article
Complex II assembly drives metabolic adaptation to OXPHOS dysfunction
DOI: 10.1126/sciadv.adr6012
RECENT PROJECTS
2013
Research Grant
Modelling Friedreich Ataxia Neurodegeneration Using Induced Pluripotent Stem Cells
2013
Research Grant
Three-Dimensional Cryo Electron Microscopy Facility
2013
Research Grant
Three-Dimensional Cryo Electron Microscopy Facility
2013
Internal Research Grant
Three-Dimensional Cryo Electron Microscopy Facility