Roger James

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Granulocyte colony-stimulating factor to prevent dose-limiting neutropenia in non-Hodgkin's lymphoma: a randomized controlled trial

Ruth Pettengell, Howard Gurney, DP Deakin et al. · Blood · 1992 · 331 citations · Full text

Medicine, Hematology, Oncology +12

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

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Paul Tuijnenburg, Hana Lango Allen, Siobhan O. Burns et al. · Journal of Allergy and Clinical Immunology · 2018 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13