Author

Carolina Uggenti

InsermORCID 0000-0003-2673-5120Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:DNA methylation· 2 Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Assay:ChIP-seq· 1 Research Focus:chromatin & epigenetic regulation· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Gillian RiceiD· 2 shared Yanick Joseph CrowiD· 2 shared Alice LepelleyiD· 1 shared Andreas FellasiD· 1 shared Andrew P. BadrockiD· 1 shared Angie FawkesiD· 1 shared Bertrand IsidoriD· 1 shared Denis L. J. LafontaineiD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersImmunology

Gillian RiceORCID

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2 papers

Recent·Most cited

ImmunologyNature CommunicationsPeer-reviewedOct 8, 2026

ATRX Deficiency Drives Aberrant Type I Interferon Signalling Through cGAS-Dependent Transcriptional Dysregulation

Marie‐Thérèse El‐Daher, Eve L. White, Andreas Fellas…·Yanick Joseph Crow

This study identifies ATRX deficiency as a driver of aberrant type I interferon signaling via cGAS-dependent transcriptional dysregulation in patients with cerebral white matter disease.

2 citationstop 4%

humanDNA methylation

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GeneticsbioRxivPreprintDec 12, 2019

Novel intramolecular base-pairing of the U8 snoRNA underlies a Mendelian form of cerebral small vessel disease

Andrew P. Badrock, Carolina Uggenti, Ludivine Wacheul…·Raymond T. O’Keefe

The paper identifies a novel base-pairing interaction in the U8 snoRNA that underlies a Mendelian form of cerebral small vessel disease by analyzing zebrafish models and patient fibroblasts.

1 citation

zebrafishhuman

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