Angus Clarke

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

X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Juha Kere, Anand Srivastava, Outi Montonen et al. · Nature Genetics · 1996 · 756 citations

Life Sciences, Genetics, Molecular Genetics +13

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

Angus Clarke · Journal of Medical Genetics · 1994 · 352 citations · Full text

Life Sciences, Genetics, Pediatrics +14