Author

Camille Cenni

Centre Hospitalier Universitaire de NîmesORCID 0000-0002-9048-5704Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:deconvolution· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Abhilasha JakhariD· 1 shared Alexandra AfenjariD· 1 shared Alice GoldenbergiD· 1 shared Alissa M. D’GamaiD· 1 shared Almuth CaliebeiD· 1 shared Amandine SantiniiD· 1 shared Andrée Delahaye‐DurieziD· 1 shared Anne Dieux‐CoëslieriD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abhilasha JakharORCID

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2 papers

Recent·Most cited

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, , Radu Harbuz

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

Nature Genetics · May 16, 2025Peer-reviewedGenetic & Genomic Medicine

Assessing feasibility and risk to translate, de-identify and summarize medical reports using deep learning

Lucas W. Gauthier, Marjolaine Willems, Nicolas Chatron, Camille Cenni, Pierre Meyer, Valentin Ruault, Constance F. Wells, Quentin Sabbagh, David Geneviève, Kévin Yauy

This paper evaluates deep learning methods for translating, de-identifying, and summarizing non-English medical reports, finding non-inferior performance in de-identification and high accuracy in summarization.

medRxiv · Jul 27, 2023 · PreprintGenetic & Genomic Medicine