research & publications February 12, 2025 Cell.com ArfGAP2 promotes STING proton channel activity, cytokine transit, and autoinflammation
research & publications December 16, 2024 Journal of Clinical Investigation Crizanlizumab for retinal vasculopathy with cerebral leukoencephalopathy in a phase II clinical study
research & publications December 13, 2024 Journal of Clinical Immunology Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy
research & publications June 1, 2024 Nature Communications Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans
research & publications March 5, 2023 National Library of Medicine Liver pathology in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: vasculopathic disease beyond nodular regenerative hyperplasia
research & publications February 7, 2023 Nature Communications A path towards personalized medicine for autoinflammatory and related diseases
research & publications October 6, 2020 National Library of Medicine Progressive Worsening of Neurological Disease in Patients with RVCL Ford et al., published in Neurology in 2020
research & publications January 5, 2020 National Library of Medicine A Model of RVCL Mulder et al., published in Stroke in 2020
research & publications December 4, 2017 National Library of Medicine Biomarkers of RVCL Pelzer et al, published in Stroke in 2017
research & publications November 13, 2016 National Library of Medicine Systematic Clinical Characterization of RVCL Stam et al., published in Brain 2016
research & publications September 3, 2007 National Library of Medicine TREX1 Mutations Cause RVCL Richards et al., published in Nature Genetics in 2007
research & publications November 9, 1997 National Library of Medicine Early Description of RVCL (HERE CALLED HERNS) Jen et al, published in Neurology in 1997
