Barbara Boardman

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

Inherited p40phox deficiency differs from classic chronic granulomatous disease

Annemarie van de Geer, Alejandro Nieto-Patlán, Douglas B. Kuhns et al. · Journal of Clinical Investigation · 2018 · 133 citations · Full text

Life Sciences, Genetics, Immunology +10

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

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

Ekaterina Minskaia, Jesmeen Maimaris, Persephone Jenkins et al. · Journal of Clinical Immunology · 2023 · 43 citations · Full text

Life Sciences, Dermatology, Immunology +17