david thorburn

Murdoch Childrens Research Institute

Australia

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Articles (20)

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2025

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Collaborators (13)

Stephanie Best

Associate Professor

University of Melbourne

AUSTRALIA

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David Arthur Stroud

Associate Professor

University of Melbourne

AUSTRALIA

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Mizuki Honda

Assistant professor

Hiroshima University

JAPAN

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Sebastian Lunke

AUSTRALIA

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Nicole Van Bergen

University of Melbourne

AUSTRALIA

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James Pitt

Head of Newborn & Metabolic Screening

Murdoch Childrens Research Institute

AUSTRALIA

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Michelle de Silva

Murdoch Childrens Research Institute

AUSTRALIA

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Sumudu Amarasekera

University of Melbourne

AUSTRALIA

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Diana Stojanovski

Senior Lecturer

University of Melbourne

AUSTRALIA

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Mark Cowley

Associate Professor

University of New South Wales

AUSTRALIA

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Shinya Oki

特定准教授 / Program-Specific Associate Professor

Kyoto University

JAPAN

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Sheik Nadeem Elahee Doomun

University of Melbourne

AUSTRALIA

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Nicole Lake

Assistant Professor of Genetics

Yale University

UNITED STATES

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david thorburn

Research Interests

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Articles (20)

Complex II assembly drives metabolic adaptation to OXPHOS dysfunction

Therapies for Mitochondrial Disease: Past, Present, and Future.

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

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

Review: Utility of mass spectrometry in rare disease research and diagnosis

Critically unwell infants and children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing.

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses.

A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.

Quantifying constraint in the human mitochondrial genome.

Mitochondrial biology and dysfunction in secondary mitochondrial disease

Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation

Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Erratum: Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome (eLife (2019) 8 PII: e56968)

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Collaborators (13)

Stephanie Best

David Arthur Stroud

Mizuki Honda

Sebastian Lunke

Nicole Van Bergen

James Pitt

Michelle de Silva

Sumudu Amarasekera

Diana Stojanovski

Mark Cowley

Shinya Oki

Sheik Nadeem Elahee Doomun

Nicole Lake

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