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D

David R. Thorburn

Royal Children's Hospital

77H-index
387Paper Count
2.4WCitation Count
Published Papers 119
Publication Date
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NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment
errJournal of Inherited Metabolic Disease
IF3.8
err2026-08-20
err0
errOAAI
errNajmesadat Seyedkatouli; Liana N. Semcesen; Lucia Gallucci; Tim Sikora; Jean-François Conrotte; Mei R. M. Du; Marat Kasakin; Gezime Seferi; Licia Corona; Martin Jakubec; Brunda Nijagal; Sajel Lala; Rebecca D. Ganetzky; Ana Maria Rodriguez Barreto; Marina Szlago; Melanie Wong; Margit Shah; James Nurse; Nicola Foulds; Shankar Sadagopan; Ha Nguyen Thu; Dung Vu Chi; Khanh Nguyen Ngoc; Michelle G. de Silva; Mirana Ramialison; Fernando Rossello; MitoMDT Diagnostic Network for Genomics and Omics; David R. Thorburn; Matthew Lynch; Pauline McGrath; David A. Stroud; John Christodoulou; Carole L. Linster; Nicole J. Van Bergen
errShare
errSave
Automated reanalysis of genomic data for rare disease diagnostics at scale
errNature Medicine
IF50
err2026-06-24
err0
errOAAI
errMatthew J. Welland; K. D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I. Francis; Andrew J. Mallett; Amali Mallawaarachchi; Paul J. Lockhart; Richard Leventer; Ingrid E. Scheffer; Katherine B. Howell; Karin S. Kassahn; Hamish S. Scott; Julie McGaughran; John Christodoulou; David R. Thorburn; Bryony A. Thompson; Chirag V. Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L. Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E. Samocha; Cas Simons; Daniel G. MacArthur; Zornitza Stark
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errSave
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
errThe American Journal of Human Genetics
IF0
err2026-03-30
err0
errOAAI
errNatalie B. Tan; Matthias Gautschi; Michael Raum; Daniella H. Hock; Robert Kopajtich; Jia Wang; Xiao Qian; Tanavi Sharma; Timothy E. Green; Jean-Marc Nuoffer; Katrina M. Bell; Katarzyna Pospieszny; Tegan Stait; Chloe Pike; Michelle Cao; Susan M. White; David R. Thorburn; Theresa Brunet; Matias Wagner; Wolfgang Müller-Felber
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errSave
Mainstreaming genomic testing for mitochondrial disease in Australia
errEuropean Journal of Human Genetics
IF4.6
err2026-02-26
err0
errOAAI
errMegan Ball; Naomi Baker; Sze Chern Lim; Sarah Casauria; Sebastian Lunke; Alison G. Compton; David R. Thorburn; John Christodoulou; Zornitza Stark
errShare
errSave
Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome
errStem Cell Research
IF0.7
err2026-01-01
err0
errOAAI
errLow, Yau Chung; McKnight, Cameron L.; Stojanovski, Diana; Thorburn, David R.; Frazier, Ann E.
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errSave
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-10-01
err0
PREAI
errZhao, Teresa; Allan, Kirsten; Taylor, Juliet; Thorburn, David R.; White, Susan M.; Tan, Tiong Y.; Christodoulou, John; Tan, Natalie B.; Stroud, David A.
errShare
errSave
Complex II assembly drives metabolic adaptation to OXPHOS dysfunction
errScience Advances
IF12.5
err2025-08-15
err0
errOAAI
errRoopasingam Kugapreethan; Sheik Nadeem Elahee Doomun; Joanna Sacharz; Ann E. Frazier; Tanavi Sharma; Yau Chung Low; Shuai Nie; Michael G. Leeming; Linden Muellner-Wong; Karena Last; Tegan Stait; David P. De Souza; David R. Thorburn; Malcolm J. McConville; David A. Stroud
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errSave
Therapies for Mitochondrial Disease: Past, Present, and Future
errJournal of Inherited Metabolic Disease
IF3.8
err2025-07-25
err0
errOAAI
errMegan Ball; Nicole J. van Bergen; Alison G. Compton; David R. Thorburn; Shamima Rahman; John Christodoulou
errShare
errSave
Review: Utility of mass spectrometry in rare disease research and diagnosis
errNPJ GENOMIC MEDICINE
IF4.8
err2025-03-31
err0
errOAAI
errZhao, Teresa; Hock, Daniella H.; Pitt, James; Thorburn, David R.; Stroud, David A.
errShare
errSave
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
errGENETICS IN MEDICINE
IF6.2
err2025-01-01
err0
PREAI
errBall, Megan; Bouffer, Sophie E.; Barnett, Christopher B.; Freckmann, Mary-Louise; Hunter, Matthew F.; Kamien, Benjamin; Kassahn, Karin S.; Lunke, Sebastian; Patel, Chirag, V; Pinner, Jason; Roscioli, Tony; Sandaradura, Sarah A.; Scott, Hamish S.; Tan, Tiong Y.; Wallis, Mathew; Compton, Alison G.; Thorburn, David R.; Stark, Zornitza; Christodoulou, John
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errSave
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-11-29
err1
errOAAI
errGonzalez, Francisco Santos; Hock, Daniella H.; Thorburn, David R.; Mordaunt, Dylan; Williamson, Nicholas A.; Ang, Ching-Seng; Stroud, David A.; Christodoulou, John; Goranitis, Ilias
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errSave
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-07-01
err2
PREAI
errBernhardt, Isaac; Frajman, Leah E.; Ryder, Bryony; Andersen, Erik; Wilson, Callum; Mckeown, Colina; Anderson, Tim; Coman, David; Vincent, Andrea L.; Buchanan, Christina; Roxburgh, Richard; Pitt, James; De Hora, Mark; Christodoulou, John; Thorburn, David R.; Wilson, Francessa; Drake, Kylie M.; Leask, Megan; Yardley, Anne-Marie; Merriman, Tony; Robertson, Stephen; Compton, Alison G.; Glamuzina, Emma
errShare
errSave
Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease
errMOLECULAR AND CELLULAR BIOLOGY
IF2.7
err2024-06-03
err2
errOAAI
errCrameri, Jordan J.; Palmer, Catherine S.; Stait, Tegan; Jackson, Thomas D.; Lynch, Matthew; Sinclair, Adriane; Frajman, Leah E.; Compton, Alison G.; Coman, David; Thorburn, David R.; Frazier, Ann E.; Stojanovski, Diana
errShare
errSave
CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex
errJOURNAL OF CELL BIOLOGY
IF6.4
err2024-01-25
err2
errOAAI
errBaker, Megan J.; Blau, Kai Uwe; Anderson, Alexander J.; Palmer, Catherine S.; Fielden, Laura F.; Crameri, Jordan J.; Milenkovic, Dusanka; Thorburn, David R.; Frazier, Ann E.; Langer, Thomas; Stojanovski, Diana
errShare
errSave
Integrated multi-omics for rapid rare disease diagnosis on a national scale
errNATURE MEDICINE
IF50
err2023-06-08
err35
errOAAI
errLunke, Sebastian; Bouffler, Sophie. E. E.; Patel, Chirag. V. V.; Sandaradura, Sarah. A. A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew. F. F.; Barnett, Christopher. P. P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong. Y. Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin. S. S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda. R. S. R.; Scott, Hamish. S. S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma. R. R.; de Silva, Michelle. G. G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole. J. J.; Sikora, Tim; Semcesen, Liana. N. N.; Stroud, David. A. A.; Compton, Alison. G. G.; Thorburn, David. R. R.; Bell, Katrina. M. M.; Sadedin, Simon; North, Kathryn. N. N.; Christodoulou, John; Stark, Zornitza
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errSave
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023)
errGENETICS IN MEDICINE
IF6.2
err2023-06-01
err2
errOAAI
errVogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmannd, Saskia
errShare
errSave
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
errGENETICS IN MEDICINE
IF6.2
err2023-06-01
err9
errOAAI
errVogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia
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errSave
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
errHUMAN GENETICS
IF3.6
err2023-05-06
err13
errOAAI
errBakhshalizadeh, Shabnam; Hock, Daniella. H. H.; Siddall, Nicole. A. A.; Kline, Brianna. L. L.; Sreenivasan, Rajini; Bell, Katrina. M. M.; Casagranda, Franca; Kamalanathan, Sadishkumar; Sahoo, Jayaprakash; Narayanan, Niya; Naik, Dukhabandhu; Suryadevara, Varun; Compton, Alison. G. G.; Amarasekera, Sumudu S. C.; Kapoor, Ridam; Jaillard, Sylvie; Simpson, Andrea; Robevska, Gorjana; van den Bergen, Jocelyn; Pachernegg, Svenja; Ayers, Katie. L. L.; Thorburn, David. R. R.; Stroud, David. A. A.; Hime, Gary. R. R.; Sinclair, Andrew. H. H.; Tucker, Elena. J. J.
errShare
errSave
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-05-03
err17
errOAAI
errAmarasekera, Sumudu S. C.; Hock, Daniella H.; Lake, Nicole J.; Calvo, Sarah E.; Gronborg, Sabine W.; Krzesinski, Emma, I; Amor, David J.; Fahey, Michael C.; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K.; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; ostergaard, Elsebet; Christodoulou, John; Thorburn, David R.; Stroud, David A.; Compton, Alison G.
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errSave
Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I
errMOLECULAR AND CELLULAR BIOLOGY
IF2.7
err2023-03-27
err223
errOAAI
errLazarou, Michael; McKenzie, Matthew; Ohtake, Akira; Thorburn, David R.; Ryan, Michael T.
errShare
errSave

Research Directions

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Co-authors
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