Author

Aline Antonio

Centre National de la Recherche ScientifiqueORCID 0000-0001-5942-9555Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:mouse· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Abigail R. MoyeiD· 1 shared Andrea Zanetti· 1 shared Andrew Webster· 1 shared Anna M. Boguszewska‐ChachulskaiD· 1 shared Béatrice BocquetiD· 1 shared Carlo RivoltaiD· 1 shared Carmen AyusoiD· 1 shared Christel CondroyeriD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abigail R. MoyeORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 31, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Zoéline Mars, Andrea Zanetti, Karolina Kamińska…·Isabelle Perrault

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

1 citation

mouseDNA methylation

𝕏 PostBluesky