John Christodoulou

Rett syndrome: Revised diagnostic criteria and nomenclature

Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze et al. · Annals of Neurology · 2010 · 1.4K citations · Full text

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S. Rahman, Rozanne B. Blok, H H Dahl et al. · Annals of Neurology · 1996 · 776 citations

Down Syndrome, Complex Iv-deficient Sibships, Genetic Testing +13

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Linda S. Weaving, John Christodoulou, Sarah Williamson et al. · The American Journal of Human Genetics · 2004 · 498 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetic Disorder +12

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Y. Tatuch, John Christodoulou, Annette Feigenbaum et al. · PubMed · 1992 · 484 citations

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 471 citations