Author

Elise Sacaze

Centre Hospitalier Régional Universitaire de BrestORCID 0000-0001-9138-4852Unclaimed 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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Approach:experimental assay· 1 Organism:human· 1 Organism:zebrafish· 1

Frequent Co-Authors

Adèle FendleriD· 1 shared Agnès Guët· 1 shared Alicia BessoniD· 1 shared Anne‐Louise LeuteneggeriD· 1 shared Audrey PutouxiD· 1 shared Audric CologneiD· 1 shared Caroline MichotiD· 1 shared Clara Benoit‐PilveniD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adèle FendlerORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineProceedings of the National Academy of SciencesPeer-reviewedFeb 21, 2023

Deficiency of U4atac snRNA secondarily results in ciliary defects

Deepak Khatri, Audrey Putoux, Audric Cologne…·Marion Delous

The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.

23 citations

humanzebrafish

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