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个人简介
His group is primarily involved in researching the genetic basis of mitochondrial energy generation disorders. They were among the first to use Next Generation Sequencing technologies to identify mutations in known and novel disease genes. This subsequently expanded into multi-omic approaches incorporating transcriptomics and proteomics to identify candidate genes and provide functional validation of genomic variants. His team has identified pathogenic mutations in >600 patients in >100 genes, including 13 mitochondrial DNA genes and 30 novel nuclear disease genes.
As co-lead of the Australian Genomics Mitochondrial Flagship (2017-20) and Lead of the Medical Research Future Fund-supported MitoMDT project (2021-25), he has developed national networks seeking to incorporate genomic and multi-omic testing into Australian healthcare. He is a member of the executive of RDNow, whose vision is to enable all children seen on the Royal Children’s Hospital campus with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention. As a Director of the Mito Foundation, he was the academic/research Lead for the Foundation’s campaign to legalise mitochondrial donation, culminating in Maeve’s law being legislated in 2022.
研究兴趣
论文共 343 篇作者统计合作学者相似作者
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Jordan J. Crameri,Catherine S. Palmer,Tegan Stait,Thomas D. Jackson, Matthew Lynch, Adriane Sinclair, Leah E. Frajman,Alison G. Compton,David Coman,David R. Thorburn,Ann E. Frazier,Diana Stojanovski
Molecular and cellular biologypp.1-19, (2024)
Peter J Houweling,Chrystal F Tiong,Leonit Kiriaev,Roberto Diaz-Pena,Patrick K Albers,Harrison Wood,Victoria Wyckelsma,Tegan Stait,Tomas Venckunas,Pedro Valenzuela,ADRIAN Castillo-Garcia,Marius Brazaitis,Yemima Berman,Jane T Seto,Hakan Westerblad,Monkol Lek,David Thorburn,Alejandro Lucía,Stewart Head,Kathryn N North
biorxiv(2024)
Isaac Bernhardt, Leah E. Frajman,Bryony Ryder, Erik Andersen,Callum Wilson, Colina Mckeown,Tim Anderson,David Coman,Andrea L. Vincent,Christina Buchanan,Richard Roxburgh,James Pitt,Mark De Hora,John Christodoulou,David R. Thorburn,Francessa Wilson,Kylie M. Drake,Megan Leask, Anne-Marie Yardley,Tony Merriman, Stephen Robertson,Alison G. Compton,Emma Glamuzina
MOLECULAR GENETICS AND METABOLISMno. 3 (2024)
Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Alicia Ljungdahl,Sarah L Stenton,Susan Walker,Jenny Lord,Gabrielle Lemire, Alexandra C Martin-Geary,Vijay S Ganesh, Jialan Ma,Jamie M Ellingford,Erwan Delage,Elston N D'Souza,Shan Dong,David R Adams, Kirsten Allan,Madhura Bakshi, Erin E Baldwin,Seth I Berger,Jonathan A Bernstein, Ishita Bhatnagar,Ed Blair,Natasha J Brown,Lindsay C Burrage,Kimberly Chapman,David J Coman,Alison G Compton, Chloe A Cunningham,Precilla D'Souza,Petr Danecek,Emmanuèle C Délot,Kerith-Rae Dias,Ellen R Elias,Frances Elmslie,Care-Anne Evans,Lisa Ewans,Kimberly Ezell,Jamie L Fraser,Lyndon Gallacher,Casie A Genetti,Anne Goriely,Christina L Grant,Tobias Haack, Jenny E Higgs,Anjali G Hinch,Matthew E Hurles,Alma Kuechler,Katherine L Lachlan,Seema R Lalani,François Lecoquierre,Elsa Leitão,Anna Le Fevre,Richard J Leventer,Jan E Liebelt,Sarah Lindsay,Paul J Lockhart,Alan S Ma,Ellen F Macnamara, Sahar Mansour,Taylor M Maurer,Hector R Mendez,Kay Metcalfe,Stephen B Montgomery, Mariya Moosajee,Marie-Cécile Nassogne,Serena Neumann, Michael O'Donoghue,Melanie O'Leary,Elizabeth E Palmer, Nikhil Pattani,John Phillips,Georgia Pitsava, Ryan Pysar,Heidi L Rehm,Chloe M Reuter,Nicole Revencu,Angelika Riess,Rocio Rius,Lance Rodan,Tony Roscioli,Jill A Rosenfeld,Rani Sachdev, Charles J Shaw-Smith,Cas Simons,Sanjay M Sisodiya,Penny Snell, Laura St Clair,Zornitza Stark,Helen S Stewart,Tiong Yang Tan,Natalie B Tan,Suzanna E L Temple,David R Thorburn,Cynthia J Tifft,Eloise Uebergang,Grace E VanNoy,Pradeep Vasudevan,Eric Vilain,David H Viskochil,Laura Wedd,Matthew T Wheeler,Susan M White,Monica Wojcik,Lynne A Wolfe,Zoe Wolfenson,Caroline F Wright,Changrui Xiao,David Zocche,John L Rubenstein,Eirene Markenscoff-Papadimitriou,Sebastian M Fica,Diana Baralle,Christel Depienne,Daniel G MacArthur, M,Stephan J Sanders,Anne O'Donnell-Luria,Nicola Whiffin
Natureno. 8026 (2024): 832-840
Daniella H Hock,Nikeisha J Caruana,Liana N Semcesen,Nicole J Lake,Luke E Formosa,Sumudu SC Amarasekera,Tegan Stait,Simone Tregoning, Leah E Frajman,David RL Robinson, Megan Ball,Boris Reljic,Bryony Ryder,Mathew J Wallis,Anand Vasudevan, Cara Beck,Heidi Peters,Joy Lee, MitoMDT Diagnostic Network for Genomics and Omics,Vasiliki Karlaftis,Chantal Attard,Paul Monagle, Amanda Samarasinghe, Rosie Brown,Weimin Bi,Monkol Lek,Robert McFarland,Robert W Taylor,Michael T Ryan,Zornitza Stark,John Christodoulou,Alison G Compton,David R Thorburn,David A Stroud
medrxiv(2024)
Nature (2024)
Tiong Yang Tan, Michelle De Silva,Katrina Bell,Lyndon Gallacher, Rocio Rius, Kirsten Allan,Natasha J. Brown,Natalie Tan, Smitha Kumble,Russell Gear,Cas Simons, David Stroud,David Thorburn,John Christodoulou,Sue White
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 10-10
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The Journal of cell biologyno. 3 (2024)
Megan Ball, Sophie E Bouffler, Christopher B Barnett, Mary-Louise Freckmann, Matthew F Hunter,Benjamin Kamien, Karin S Kassahn,Sebastian Lunke, Chirag V Patel,Jason Pinner,Tony Roscioli,Sarah A Sandaradura, Hamish S Scott, Tiong Y Tan,Mathew Wallis, Alison G Compton,David R Thorburn,Zornitza Stark,John Christodoulou
Genetics in medicine official journal of the American College of Medical Geneticspp.101293-101293, (2024)
Sumudu S. C. Amarasekera,Daniella H. Hock, Nicole J. Lake, Sarah E. Calvo,Sabine W. Gronborg,Emma Krzesinski, David J. Amor,Michael C. Fahey,Cas Simons,Flemming Wibrand,Vamsi K. Mootha,Monkol Lek,Sebastian Lunke,Zornitza Stark,Elsebet ostergaard,John Christodoulou,David R. Thorburn,David A. Stroud,Alison G. Compton
Human molecular genetics online/Human molecular geneticsno. 15 (2023): 2441-2454
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作者统计
#Papers: 343
#Citation: 19536
H-Index: 69
G-Index: 135
Sociability: 8
Diversity: 4
Activity: 69
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