Nicholas Gleadall

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

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French et al. · Genome Medicine · 2018 · 200 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall et al. · Nature Communications · 2020 · 129 citations · Full text

Medicine, Genetics, Molecular Genetics +15