Associated Papers
Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank.
Rioux B et al.
Nature Communications, 2026
41593088 (PubMed )
Supplement: 41467_2025_67832_MOESM1_ESM.pdf
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_55
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40034755 (PubMed )
Supplement: media-5.xlsx › Supplementary_Note_Table_28
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
39347527 (PubMed )
Supplement: PED4-8-193-s001.pdf
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
de Barcelos IP et al.
Molecular Genetics and Metabolism, 2024
Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.
Świerczyńska M et al.
Journal of Personalized Medicine, 2023
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J et al.
Journal of Clinical Medicine, 2019
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
25604658 (PubMed )
Supplement: supplement_1.docx
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].
Ji T et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
Kavanagh D et al.
Cell Cycle (georgetown, Tex.), 2008
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