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Thorax|November 1, 2019
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhageMarie-Louise Frémond, Marie Legendre, Michael Fayon, et al.Nature|July 27, 2018
Mitochondrial double-stranded RNA triggers antiviral signalling in humansAshish Dhir, Somdutta Dhir, Lukasz S Borowski, et al.Pediatric Rheumatology Online Journal|October 4, 2014
Mutations in CECR1 associated with a neutrophil signature in peripheral bloodAlexandre Belot, Evangeline Wassmer, Marinka Twilt, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 20, 2016
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndromeDavide Tonduti, Simona Orcesi, Emma M Jenkinson, et al.Nature|November 8, 2011
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolaseDavid C Goldstone, Valerie Ennis-Adeniran, Joseph J Hedden, et al.Journal of Medical Genetics|November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1John H Livingston, Jean-Pierre Lin, Russell C Dale, et al.Human Mutation|May 22, 2018
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-functionLyse Ruaud, Gillian I Rice, Christelle Cabrol, et al.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.Pageof 10