Author

Anne Dieux‐Coëslier

Centre Hospitalier Universitaire de LilleORCID 0000-0002-8436-6688Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Benoı̂t ArveileriD· 2 shared Dominique BonneauiD· 2 shared Juliette CoursimaultiD· 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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Benoı̂t ArveilerORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMay 16, 2025

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

Caroline Nava, Benjamin Cogné, Amandine Santini…·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.

57 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinePigment Cell & Melanoma ResearchPeer-reviewedAug 31, 2023

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…·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.

10 citations

humanbulk RNA-seq

𝕏 PostBluesky