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The Journal of Allergy and Clinical Immunology|May 15, 2021
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunityMatthias Haimel, Julia Pazmandi, Raúl Jiménez Heredia, et al.
Science Immunology|December 15, 2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2Christopher J A Duncan, Benjamin J Thompson, Rui Chen, et al.
Nature Genetics|January 11, 2011
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signatureTracy A Briggs, Gillian I Rice, Sarah Daly, et al.
The Lancet. Rheumatology|January 24, 2024
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohortsAlexandre Belot, Gillian I Rice, Sulliman Ommar Omarjee, et al.
Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Nature Genetics|September 25, 2012
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureGillian I Rice, Paul R Kasher, Gabriella M A Forte, et al.
Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2018
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic diseaseBatsukh Dorjbal, Jeffrey R Stinson, Chi A Ma, et al.
Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological InvolvementValentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.
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