Ebun Omoyinmi

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Anja Brehm, Yin Liu, Afzal Sheikh et al. · Journal of Clinical Investigation · 2015 · 339 citations · Full text

Life Sciences, Dermatology, Genetics +15

Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases

Sira Nanthapisal, Claire Murphy, Ebun Omoyinmi et al. · Arthritis & Rheumatology · 2016 · 171 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

Dorota Rowczenio, Sónia Gomes, Juan I. Aróstegui et al. · Frontiers in Immunology · 2017 · 150 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +15

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <i>WDR1 </i>

Ariane Standing, Dessislava Malinova, Ying Hong et al. · The Journal of Experimental Medicine · 2016 · 142 citations · Full text

Life Sciences, Immunology, Pathobiology +17

Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome

Dorota Rowczenio, Shelly Pathak, Juan I. Aróstegui et al. · Blood · 2017 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6