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John Christodoulou is a medical graduate of the University of Sydney, and has formal qualifications in paediatrics and medical genetics, with his main current focus of clinical practice being in the diagnosis and management of children with inborn errors of metabolism. He undertook his formal genetic training at the Murdoch Research Institute in Melbourne, Australia, under the guidance of Garry Brown and the late David Danks, and had further postdoctoral training in genetic metabolic disorders at the Hospital for Sick Children in Toronto, Canada, under the mentorship of Joe Clarke and Rod McInnes.
He has an active laboratory-based and clinical Rett syndrome research program, as well as in genetic metabolic disorders, including phenylketonuria (PKU), the mitochondrial respiratory chain (energy production) disorders and other inborn errors of metabolism, and has a strong research interest in the application of next generation sequencing technologies for disease gene discovery in rare Mendelian disorders. He is currently the Director of the Western Sydney Genetics Program, and Professor in the Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, and in April 2013 became the Head of the Discipline of Genetic Medicine. John Christodoulou is the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, the Co-Leader of the Brain and Mitochondrial Research Group, and Director of the Genetics Research Theme, at the Murdoch Children’s Research Institute in Melbourne, Australia. He graduated from the University of Sydney, and has formal qualifications in paediatrics, medical genetics and genetic pathology. His research interests include Rett syndrome and mitochondrial disorders, and he has a major research interest in the application of next generation sequencing (NGS) technologies in rare genetic disorders. He is the Co-Lead of the Australian Genomics Health Alliance, focusing on bringing NGS diagnostics into mainstream clinical practice in Australia. John is a former Past President of the Human Genetics Society of Australasia. In 2010 he became a Member of the General Division of the Order of Australia (AM) and in 2017 became a Fellow of the Australian Academy of Health & Medical Sciences.
He has an active laboratory-based and clinical Rett syndrome research program, as well as in genetic metabolic disorders, including phenylketonuria (PKU), the mitochondrial respiratory chain (energy production) disorders and other inborn errors of metabolism, and has a strong research interest in the application of next generation sequencing technologies for disease gene discovery in rare Mendelian disorders. He is currently the Director of the Western Sydney Genetics Program, and Professor in the Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, and in April 2013 became the Head of the Discipline of Genetic Medicine. John Christodoulou is the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, the Co-Leader of the Brain and Mitochondrial Research Group, and Director of the Genetics Research Theme, at the Murdoch Children’s Research Institute in Melbourne, Australia. He graduated from the University of Sydney, and has formal qualifications in paediatrics, medical genetics and genetic pathology. His research interests include Rett syndrome and mitochondrial disorders, and he has a major research interest in the application of next generation sequencing (NGS) technologies in rare genetic disorders. He is the Co-Lead of the Australian Genomics Health Alliance, focusing on bringing NGS diagnostics into mainstream clinical practice in Australia. John is a former Past President of the Human Genetics Society of Australasia. In 2010 he became a Member of the General Division of the Order of Australia (AM) and in 2017 became a Fellow of the Australian Academy of Health & Medical Sciences.
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Alicia Byrne, Dimitar Azmanov,Sze Chai,John Christodoulou, Matilda Haas, Karin Kassahn,Ben Lundie,Sebastian Lunke, Ami Stott,Bryony Thompson,Tony Badrick,Bruce Bennetts
Genetics in Medicine Open (2024): 101433
Anna Huber,Victoria Sarne,Alexander V. Beribisky,Daniela Ackerbauer,Sophia Derdak, Silvia Madritsch, Julia Etzler,Sigismund Huck,Petra Scholze, Ilayda Gorgulu,John Christodoulou,Christian R. Studenik,
Hamish S. Scott, Ebony Matotek,Tessa Mattiske, Robert J. Bryson-Richardson,Ian Smyth,Jozef Gecz,John Christodoulou,Nathan Palpant,Kelly Smith, Coral Warr,Bruce Bennetts,Paul Thomas,
Felipe Martelli, Jiayi Lin, Sarah Mele, Wendy Imlach, Oguz Kanca,Christopher K. Barlow,Jefferson Paril,Ralf B. Schittenhelm,John Christodoulou,Hugo J. Bellen,Matthew D.W. Piper,Travis K. Johnson
Cell Reportsno. 3 (2024): 113861-113861
Lilian Downie, Sophie E. Bouffler,David J. Amor,John Christodoulou,Alison Yeung,Ari E. Horton,Ivan Macciocca,Alison D. Archibald, Meghan Wall, Jade Caruana,Sebastian Lunke,Zornitza Stark
Genetics in Medicineno. 5 (2024): 101077-101077
medRxiv (Cold Spring Harbor Laboratory) (2024): 101145
Ali AlMail,Ahmed Jamjoom,Amy Pan, Min Yi Feng,Vann Chau, Alissa M D'Gama,Katherine Howell, Nicole S Y Liang,Amy McTague,Annapurna Poduri,Kimberly Wiltrout, IPCHiP Executive Committee,
Journal of Biological Chemistryno. 3 (2024)
Sebastian Lunke, Sophie E Bouffler,Lilian Downie, Jade Caruana,David J Amor,Alison Archibald,Yvonne Bombard,John Christodoulou,Marc Clausen, Paul De Fazio,Ronda F Greaves, Sebastian Hollizeck,
BMJ openno. 4 (2024): e081426-e081426
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