Harriet McKinney

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

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

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Manfred Fliegauf, Nils Klammer, Natalie Frede et al. · Journal of Allergy and Clinical Immunology · 2020 · 130 citations · Full text

Life Sciences, Genetics, Immunology +13

Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice

José A. Guerrero, Cavan Bennett, Louise van der Weyden et al. · Blood · 2014 · 90 citations · Full text

Medicine, Cell Biology, Hematology +17

High-throughput elucidation of thrombus formation reveals sources of platelet function variability

Johanna P. van Geffen, Sanne L. N. Brouns, Joana Batista et al. · Haematologica · 2018 · 81 citations · Full text

Medicine, Hematology, Biomems +16