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Cold Spring Harbor Molecular Case Studies|October 3, 2018
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology caseGloria T Haskell, Mari Mori, Cynthia Powell, et al.American Journal of Human Genetics|May 4, 2020
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and CystsAndrew P Badrock, Carolina Uggenti, Ludivine Wacheul, et al.Neurology|February 15, 2013
Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndromeAsako Takanohashi, Morgan Prust, Jichuan Wang, et al.Plos One|December 3, 2015
ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T CellsEloy Cuadrado, Thijs Booiman, John L van Hamme, et al.Journal of Clinical Immunology|December 13, 2016
Assessment of Type I Interferon Signaling in Pediatric Inflammatory DiseaseGillian I Rice, Isabelle Melki, Marie-Louise Frémond, et al.The Journal of Experimental Medicine|April 3, 2019
Bloom syndrome protein restrains innate immune sensing of micronuclei by cGASMatthieu Gratia, Mathieu P Rodero, Cécile Conrad, et al.Pediatric Rheumatology Online Journal|October 30, 2019
Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variantsLori B Tucker, Lovro Lamot, Iwona Niemietz, et al.Frontiers in Immunology|March 23, 2023
Characterization of a mutant <i>samhd1</i> zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndromeSarah E Withers, Charlie F Rowlands, Victor S Tapia, et al.American Journal of Human Genetics|January 27, 2015
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndromeFrank Rutsch, Mary MacDougall, Changming Lu, et al.Arthritis & Rheumatology (Hoboken, N.J.)|December 14, 2020
From Diagnosis to Prognosis: Revisiting the Meaning of Muscle ISG15 Overexpression in Juvenile Inflammatory MyopathiesCyrielle Hou, Chloé Durrleman, Baptiste Periou, et al.Pageof 10