Author

Anne Faudet

Sorbonne Université

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Alice GoldenbergiD· 2 shared Amandine SantiniiD· 2 shared Anne‐Marie GuerrotiD· 2 shared Anne‐Sophie Denommé‐PichoniD· 2 shared Benjamin CognéiD· 2 shared Benjamin GanneiD· 2 shared Boris KereniD· 2 shared Christèle DubourgiD· 2 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alice GoldenbergORCID

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2 papers

Recent·Most cited

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Amandine Santini, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, Pierre Marijon, Virginie Bernard, Kévin Jousselin, Nicolas Chatron, Giulia Barcia, Boris Keren, Cyril Mignot, Perrine Charles, Thomas Besnard, , Johanna Herwig

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

Nature Genetics · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

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