Stephen Hughes

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

Donald C. Vinh, Smita Y. Patel, Gülbû Uzel et al. · Blood · 2009 · 327 citations

Life Sciences, Hematology, Microbiology +14

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

Clinical Features That Identify Children With Primary Immunodeficiency Diseases

Anbezhil Subbarayan, Gloria Colarusso, Stephen Hughes et al. · PEDIATRICS · 2011 · 212 citations · Full text

Life Sciences, Immunology, Pediatrics +11

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Pranesh Chakraborty, Klaus Schmitz‐Abe, Erin K. Kennedy et al. · Blood · 2014 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14