Author

Sophie Kaltenbach

Hôpital Necker-Enfants MaladesORCID 0000-0002-6544-357XUnclaimed 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

Deficiency of U4atac snRNA secondarily results in ciliary defects

Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie Alice Dupont, Clara Benoit‐Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert‐Bellanger, Pierre Blanc, Thomas Rambaud, , 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.

Proceedings of the National Academy of Sciences · Feb 21, 2023Peer-reviewedGenetic & Genomic Medicine