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Arthritis & Rheumatology (Hoboken, N.J.)|June 13, 2017
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's ArthropathyLuciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, et al.Human Mutation|April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndromeGillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.Journal of Clinical Immunology|March 23, 2022
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ InvolvementLeslie Naesens, Josephine Nemegeer, Filip Roelens, et al.Neuropediatrics|January 11, 2014
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plusJohn H Livingston, Josephine Mayer, Emma Jenkinson, et al.Clinical Genetics|February 8, 2022
Systemic inflammatory syndrome in children with FARSA deficiencyFabienne Charbit-Henrion, Roman Goguyer-Deschaumes, Keren Borensztajn, et al.Cytokine|May 4, 2021
Differential levels of IFNα subtypes in autoimmunity and viral infectionVincent Bondet, Mathieu P Rodero, Céline Posseme, et al.Journal of Clinical Immunology|February 7, 2024
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory DiseaseClémence David, Mihaly Badonyi, Robin Kechiche, et al.Journal of Clinical Immunology|June 7, 2022
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signalingMaud Tusseau, Ema Lovšin, Charlotte Samaille, et al.Journal of Clinical Immunology|August 28, 2024
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System InflammationClément Triaille, Neha Mohan Rao, Gillian I Rice, et al.Pageof 20