John Dean

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

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

Gillian Rice, William G. Newman, John Dean et al. · The American Journal of Human Genetics · 2007 · 408 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Rikke Katrine Jentoft Olsen, S. E. Olpin, Brage Storstein Andresen et al. · Brain · 2007 · 328 citations

Life Sciences, Biochemistry, Molecular Genetics +15

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study

Susan Moore, Jane S. Green, Yanli Fan et al. · American Journal of Medical Genetics Part A · 2005 · 323 citations

Life Sciences, Genetics, Neurology +11