John Christodoulou

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Paul Bastard, Lindsey B. Rosen, Qian Zhang et al. · Science · 2020 · 2.8K citations · Full text

Life Sciences, Immunology, Infectious Diseases +14

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Qian Zhang, Paul Bastard, Zhiyong Liu et al. · Science · 2020 · 2.4K citations · Full text

Life Sciences, Immunology, Infectious Diseases +16

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

Life Sciences, Genetics, Neurology +17

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S. Rahman, Rozanne B. Blok, H H Dahl et al. · Annals of Neurology · 1996 · 780 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 500 citations · Full text

Medicine, Genetics, Molecular Genetics +14