David R. Thorburn

Flemington Road
Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 142 publications

Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.

Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.

Journal: JIMD reports

Published: December 29, 2025

Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome.

Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome.

Journal: Stem cell research

Published: December 11, 2025

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Journal: Therapeutic advances in rare disease

Published: November 19, 2025

Mainstreaming genomic testing for mitochondrial disease in Australia.

Mainstreaming genomic testing for mitochondrial disease in Australia.

Journal: European journal of human genetics : EJHG

Published: November 18, 2025

Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome.

Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome.

Journal: Stem cell research

Published: October 24, 2025

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Journal: American journal of human genetics

Published: October 09, 2025

Complex II assembly drives metabolic adaptation to OXPHOS dysfunction.

Complex II assembly drives metabolic adaptation to OXPHOS dysfunction.

Journal: Science advances

Published: August 15, 2025

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Journal: American journal of medical genetics. Part A

Published: July 17, 2025

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2025

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Journal: Nature medicine

Published: May 21, 2025

Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics.

Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics.

Journal: Science advances

Published: April 04, 2025

Public funding for mitochondrial donation: An Australian public deliberation.

Public funding for mitochondrial donation: An Australian public deliberation.

Journal: BMC medical ethics

Published: March 16, 2025

Showing 1-12 of 142

Last Updated: 09/26/2026