Associated Papers
Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders.
Vettiatil D et al.
Developmental Neuroscience, 2026
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
Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.
Dale RC et al.
Clinical & Translational Immunology, 2026
TREX1 exonuclease in immunity and disease.
Shang Z et al.
International Immunology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.
Liu R et al.
Pediatric Rheumatology Online Journal, 2025
Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders.
Vettiatil D et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.
Shekfeh M et al.
Human Genomics, 2025
The SLE-associated TREX1-P212fs mutation disrupts ER association leading to type I interferonopathy.
Xu S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.
Cildir G et al.
Nature Communications, 2024
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Shim A et al.
Human Molecular Genetics, 2024
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Chauvin SD et al.
Nature Communications, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.
Nair LS et al.
Pediatric Neurology, 2024
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Shim A et al.
Biorxiv : the Preprint Server for Biology, 2024
Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.
Tasharrofi B et al.
Iranian Journal of Child Neurology, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.
Seaby EG et al.
Healthcare (basel, Switzerland), 2023
Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.
Świerczyńska M et al.
Journal of Personalized Medicine, 2023
Monogenic lupus: Tracing the therapeutic implications from single gene mutations.
Jia X et al.
Clinical Immunology (orlando, Fla.), 2023
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
Seaby EG et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Case report: Durable response to ruxolitinib in a child with TREX1-related disorder.
Bin Khathlan Y et al.
Frontiers in Pediatrics, 2023
Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.
Atschekzei F et al.
Rmd Open, 2022
Structural basis of human TREX1 DNA degradation and autoimmune disease.
Zhou W et al.
Nature Communications, 2022
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
Amico G et al.
Genes, 2022
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A et al.
Genes, 2022
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.
Gavazzi F et al.
Pediatric Blood & Cancer, 2022
Opsoclonus-myoclonus in Aicardi-Goutières syndrome.
Alburaiky S et al.
Developmental Medicine and Child Neurology, 2021
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Endocrinopathies in Aicardi Goutières syndrome-A descriptive case series.
Worth C et al.
Clinical Case Reports, 2020
Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome.
Yi C et al.
Pediatric Rheumatology Online Journal, 2020