Ravishankar Sargur

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

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

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Sarah Spencer, Sevgi Köstel Bal, William Egner et al. · The Journal of Experimental Medicine · 2019 · 199 citations · Full text

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

The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008–2012

David Edgar, Matthew Buckland, David Guzman et al. · Clinical & Experimental Immunology · 2013 · 106 citations · Full text

Clinical Immunology, Ukpid Registry, Immunodeficiencies +21