Gururaj Arumugakani

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 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 · 277 citations · Full text

COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience

Adrian Shields, Siobhan O. Burns, Sinisa Savic et al. · Journal of Allergy and Clinical Immunology · 2020 · 234 citations · Full text

Primary Immunodeficiency, Secondary Immunodeficiency, United Kingdom Experience +7

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

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer et al. · Journal of Allergy and Clinical Immunology · 2020 · 120 citations · Full text

Autoimmune Disease, Genetic Disorder, Medicine +11