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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 311 篇作者统计合作学者相似作者
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Yuyang Chen,Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton,Susan Walker,Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma,Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza,
medRxiv : the preprint server for health sciences (2024)
Megan J. Baker, Kai Uwe Blau, Alexander J. Anderson,Catherine S. Palmer,Laura F. Fielden,Jordan J. Crameri, Dusanka Milenkovic,David R. Thorburn,Ann E. Frazier,Thomas Langer,Diana Stojanovski
JOURNAL OF CELL BIOLOGYno. 3 (2024)
引用7浏览0WOSNATURE引用
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EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 37-38
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Tasneem Qaqorh,Yusuke Takahashi, Kentaro Otani, Issei Yazawa,Yuya Nishida,Yoshitaka Fujihara,Mizuki Honda,Shinya Oki,Yasuyuki Ohkawa,David R. Thorburn,Ann E. Frazier,Atsuhito Takeda,
bioRxiv (Cold Spring Harbor Laboratory) (2023)
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American Journal of Medical Genetics - Part Ano. 6 (2023): 1599-1606
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