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Genetics

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82
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26209
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1467
National Ranking
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Medicine

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Citations
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Overview

David R. Thorburn is affiliated with the Murdoch Children's Research Institute in Australia. Their research primarily concentrates on biochemistry, genetics, and molecular biology, with a strong emphasis on mitochondrial function and related diseases.

Their work spans multiple specialized subfields, including molecular biology, genetics, clinical biochemistry, physiology, and cell biology. Key research topics they have explored cover mitochondrial function and pathology, metabolism and genetic disorders, genomics and rare diseases, ATP synthase and ATPases research, RNA modifications and cancer, RNA and protein synthesis mechanisms, as well as genetics and neurodevelopmental disorders.

Recent publications authored or co-authored by David R. Thorburn include:

  • Mitochondrial disease in adults: recent advances and future promise (2021) in The Lancet Neurology
  • Integrated multi-omics for rapid rare disease diagnosis on a national scale (2023) in Nature Medicine
  • The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease (2020) in Genetics in Medicine
  • High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content (2021) in Nature Communications
  • De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024) in Nature

Frequent co-authors of Thorburn include:

  • John Christodoulou (37 collaborative works)
  • Alison G. Compton (30 collaborative works)
  • David A. Stroud (27 collaborative works)
  • Zornitza Stark (19 collaborative works)
  • Daniella H. Hock (18 collaborative works)

David R. Thorburn's contributions have appeared predominantly in several publication venues, including:

  • bioRxiv (Cold Spring Harbor Laboratory) with 11 publications
  • Genetics in Medicine with 7 publications
  • Human Mutation with 4 publications
  • JIMD Reports with 4 publications
  • Nature Communications with 2 publications

Best Publications

  • A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

    David J. Pagliarini;Sarah E. Calvo;Betty Chang;Sunil A. Sheth

  • Leigh syndrome: Clinical features and biochemical and DNA abnormalities

    Shamima Rahman;R. B. Blok;H. H. M. Dahl;David M. Danks

  • Diagnostic criteria for respiratory chain disorders in adults and children

    F.P. Bernier;A. Boneh;X. Dennett;C.W. Chow

  • Minimum birth prevalence of mitochondrial respiratory chain disorders in children

    Daniela Skladal;Jane Halliday;David R Thorburn

  • Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

    Sarah E. Calvo;Alison G. Compton;Steven G. Hershman;Steven G. Hershman;Sze Chern Lim;Sze Chern Lim

  • Accessory subunits are integral for assembly and function of human mitochondrial complex I

    David A. Stroud;Elliot E. Surgenor;Luke E. Formosa;Luke E. Formosa;Boris Reljic

  • RAGE-Induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes

    Melinda T. Coughlan;David R. Thorburn;Sally A. Penfold;Sally A. Penfold;Adrienne Laskowski

  • Leigh syndrome: One disorder, more than 75 monogenic causes

    Nicole J. Lake;Nicole J. Lake;Alison G. Compton;Alison G. Compton;Shamima Rahman;David R. Thorburn;David R. Thorburn

  • Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients

    Matthew McKenzie;Michael Lazarou;David R. Thorburn;David R. Thorburn;Michael T. Ryan

  • Mitochondrial dysfunction in diabetic kidney disease.

    Josephine M. Forbes;David R. Thorburn

  • Understanding mitochondrial complex I assembly in health and disease

    Masakazu Mimaki;Xiaonan Wang;Matthew McKenzie;David R. Thorburn;David R. Thorburn

  • Treatment for mitochondrial disorders

    Gerald Pfeffer;Kari Majamaa;Douglass M Turnbull;David Thorburn

  • Biochemical assays of respiratory chain complex activity.

    Denise M Kirby;David R Thorburn;Douglass M Turnbull;Robert W Taylor

  • High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

    Sarah E Calvo;Elena J Tucker;Elena J Tucker;Alison G Compton;Denise M Kirby

  • The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

    Patrick F Chinnery;David R Thorburn;David C Samuels;Sarah L White

  • Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder

    D.M. Kirby;M. Crawford;M.A. Cleary;H.-H.M. Dahl

  • Mitochondrial disorders: prevalence, myths and advances.

    D. R. Thorburn

  • Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I.

    Michael Lazarou;Matthew McKenzie;Akira Ohtake;Akira Ohtake;David R. Thorburn

  • Risk of developing a mitochondrial DNA deletion disorder

    Patrick F Chinnery;Salvatore DiMauro;Sara Shanske;Eric A Schon

  • Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993

    Sarah L. White;Veronica R. Collins;Rory Wolfe;Maureen A. Cleary

Frequent Co-Authors

John Christodoulou
John Christodoulou University of Melbourne
Michael T. Ryan
Michael T. Ryan University of Sydney
Vamsi K. Mootha
Vamsi K. Mootha Harvard Medical School
Sarah E. Calvo
Sarah E. Calvo Broad Institute
Robert W. Taylor
Robert W. Taylor Newcastle University
Salvatore DiMauro
Salvatore DiMauro Columbia University
Mark J. Cowley
Mark J. Cowley Garvan Institute of Medical Research
Shamima Rahman
Shamima Rahman University College London
Douglass M. Turnbull
Douglass M. Turnbull Newcastle University
Patrick F. Chinnery
Patrick F. Chinnery University of Cambridge

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