Author

Juliette Coursimault

InsermORCID 0000-0002-2668-5779Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Anne Dieux‐CoëslieriD· 2 shared Benoı̂t ArveileriD· 2 shared Dominique BonneauiD· 2 shared Abhilasha JakhariD· 1 shared Alexandra AfenjariD· 1 shared Alice GoldenbergiD· 1 shared Alissa M. D’GamaiD· 1 shared Almuth CaliebeiD· 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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2 shared papersGenetic & Genomic Medicine

Anne Dieux‐CoëslierORCID

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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

Unsuspected consequences of synonymous and missense variants in can be detected in blood cell RNA samples of patients with albinism

Vincent Michaud, Angèle Tingaud‐Sequeira, Elina Mercier, Eulalie Lasseaux, Claudio Plaisant, Smail Hadj-Rabia, Sandra Whalen, Dominique Bonneau, Anne Dieux‐Coëslier, Fanny Morice‐Picard, Juliette Coursimault, Benoı̂t Arveiler, Sophie Javerzat

The paper shows that blood cell RNA analysis can detect the effects of OCA2 variants on exon skipping and mRNA levels, helping to reclassify variants of unknown significance as pathogenic.

Pigment Cell & Melanoma Research · Aug 31, 2023Peer-reviewedGenetic & Genomic Medicine