Peter W. Collins

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

Sarah J. Fletcher, Ben Johnson, Gillian Lowe et al. · Journal of Clinical Investigation · 2015 · 96 citations · Full text

Life Sciences, Genetics, Hematology +17

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

Irina Pleines, Joanne Woods, Stéphane Chappaz et al. · Journal of Clinical Investigation · 2017 · 81 citations · Full text

Medicine, Genetics, Hematology +13