Elizabeth McDermott

Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

Michael McDermott, Ivona Aksentijevich, Jérôme Galon et al. · Cell · 1999 · 1.4K citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects

Charlotte Schwab, Annemarie Gabrysch, Peter Olbrich et al. · Journal of Allergy and Clinical Immunology · 2018 · 441 citations · Full text

Life Sciences, Immunology, Pharmacology +12

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

Élodie Elkaim, Bénédicte Neven, Julie Bruneau et al. · Journal of Allergy and Clinical Immunology · 2016 · 285 citations · Full text

Life Sciences, Immunology, 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