John Christodoulou
The University of Sydney(AU)Royal Children's Hospital(AU)Inserm(FR)The University of Melbourne(AU)Université Paris Cité(FR)Victorian Clinical Genetics Services(AU)Murdoch Children's Research Institute(AU)Institut des Maladies Génétiques Imagine(FR)Victoria University(AU)Rockefeller University(US)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Genomics and Rare Diseases, RNA modifications and cancer
Most-Cited Works
- → Rett syndrome: Revised diagnostic criteria and nomenclature(2010)1,367 cited
- → Leigh syndrome: Clinical features and biochemical and DNA abnormalities(1996)777 cited
- → Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation(2004)498 cited
- Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.(1992)
- → Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing(2012)472 cited
- → Human genetic and immunological determinants of critical COVID-19 pneumonia(2022)384 cited
- → The Genetic Landscape and Epidemiology of Phenylketonuria(2020)351 cited