Ronnie Wright

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

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>

C.J. Duncan, Benjamin Thompson, Rui Chen et al. · Science Immunology · 2019 · 115 citations · Full text

Life Sciences, Genetics, Immunology +17

Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients

Ana Beleza‐Meireles, Rachel Hart, Jill Clayton‐Smith et al. · European Journal of Medical Genetics · 2015 · 109 citations

Medicine, Ophthalmology, Clinical Anatomy +4

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Paul R. Kasher, Katherine E. Schertz, Megan Thomas et al. · The American Journal of Human Genetics · 2016 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha et al. · Nature Communications · 2021 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12