Claire Bethune

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 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Capucine Pïcard, Horst von Bernuth, Pegah Ghandil et al. · Medicine · 2010 · 420 citations · Full text

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 · 227 citations · Full text

Primary Immunodeficiency, Disease Susceptibility, Immune Cell Development +15

HAE international home therapy consensus document

Hilary Longhurst, Henriette Farkas, Timothy Craig et al. · Allergy Asthma and Clinical Immunology · 2010 · 162 citations · Full text

Nursing, Primary Care, Medicine +12

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Batsukh Dorjbal, Jeffrey R. Stinson, Chi A. et al. · Journal of Allergy and Clinical Immunology · 2018 · 142 citations

Clinical Immunology, Molecular Immunology, Immunogenetics +11