Publications by authors named "David Thorburn"

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Public funding for mitochondrial donation: An Australian public deliberation.
Ainsley J Newson, Jane Williams, Giuliana Fuscaldo, Ashleigh Hill, Ezra Kneebone, David R Thorburn

BMC Med Ethics· October 2025

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Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.
Teresa Zhao, Kirsten Allan, Juliet Taylor, David R Thorburn, Susan M White

Am J Med Genet A· October 2025

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Complex II assembly drives metabolic adaptation to OXPHOS dysfunction.
Roopasingam Kugapreethan, Sheik Nadeem Elahee Doomun, Joanna Sacharz, Ann E Frazier, Tanavi Sharma, David R Thorburn

Sci Adv· August 2025

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, Sushma Chaluvadi, Vijay Ganesh, David R Thorburn

HGG Adv· July 2025

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Therapies for Mitochondrial Disease: Past, Present, and Future.
Megan Ball, Nicole J van Bergen, Alison G Compton, David R Thorburn, Shamima Rahman

J Inherit Metab Dis· July 2025

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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Daniella H Hock, Nikeisha J Caruana, Liana N Semcesen, Nicole J Lake, Luke E Formosa, David R Thorburn

Genome Med· May 2025

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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Matthew J Welland, K D Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, David R Thorburn

medRxiv· May 2025

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Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics.
Tasneem Qaqorh, Yusuke Takahashi, Kohei Sameshima, Kentaro Otani, Issei Yazawa, David R Thorburn

Sci Adv· April 2025

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Review: Utility of mass spectrometry in rare disease research and diagnosis.
Teresa Zhao, Daniella H Hock, James Pitt, David R Thorburn, David A Stroud

NPJ Genom Med· March 2025

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The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rocio Rius, Alison G Compton, Naomi L Baker, Shanti Balasubramaniam, Stephanie Best, David R Thorburn

Genet Med· January 2025

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Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Megan Ball, Sophie E Bouffler, Christopher B Barnett, Mary-Louise Freckmann, Matthew F Hunter, David R Thorburn

Genet Med· January 2025

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, Sushma Chaluvadi, Vijay Ganesh, David R Thorburn

medRxiv· December 2024

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Quantifying constraint in the human mitochondrial genome.
Nicole J Lake, Kaiyue Ma, Wei Liu, Stephanie L Battle, Kristen M Laricchia, David R Thorburn

Nature· November 2024

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A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.
Francisco Santos Gonzalez, Daniella H Hock, David R Thorburn, Dylan Mordaunt, Nicholas A Williamson

Orphanet J Rare Dis· November 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, David R Thorburn

Nature· August 2024

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Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Isaac Bernhardt, Leah E Frajman, Bryony Ryder, Erik Andersen, Callum Wilson, David R Thorburn

Mol Genet Metab· July 2024

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Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease.
Jordan J Crameri, Catherine S Palmer, Tegan Stait, Thomas D Jackson, Matthew Lynch, David R Thorburn

Mol Cell Biol· June 2024

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variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, David R Thorburn

medRxiv· April 2024

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Mitochondrial disease in New Zealand: a nationwide prevalence study.
Sarah Missen, Callum Wilson, Howard Potter, Andrea L Vincent, Rinki Murphy, David R Thorburn

Intern Med J· March 2024

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CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex.
Megan J Baker, Kai Uwe Blau, Alexander J Anderson, Catherine S Palmer, Laura F Fielden, David R Thorburn

J Cell Biol· March 2024

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Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, David R Thorburn

Nat Med· July 2023

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, David R Thorburn

Genet Med· June 2023

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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of -related mitochondrial disease.
Jessie Poquérusse, Melinda Nolan, David R Thorburn, Johan L K Van Hove, Marisa W Friederich

JIMD Rep· May 2023

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