Author

Marie‐Ange Delrue

Centre Hospitalier Universitaire de BordeauxORCID 0000-0003-3472-9548Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Organism:mouse· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

Andrés HernándeziD· 1 shared Anne‐Sophie Jourdain· 1 shared Aspasia Karalis· 1 shared Barbara R. PoberiD· 1 shared Boris KereniD· 1 shared Brigitte Gilbert‐DussardieriD· 1 shared Carol J. BultiD· 1 shared Claude BhéreriD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrés HernándezORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 30, 2025

An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic Variant

Geneviève Gagnon, Justin Pelletier, Dariel Ashton‐Beaucage…·Claude Bhérer

The paper estimates an elevated birth prevalence of Fraser syndrome in Quebec's French-Canadian population and identifies a founder pathogenic variant.

DOI 10.1101/2025.10.30.25336922

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedSep 25, 2023

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

Florence Petit, Mauro Longoni, Julie M. Wells…·Frances A. High

The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.

11 citations

humanmouse

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Molecular BiologyNucleic Acids ResearchPeer-reviewedAug 19, 2020

A Point Mutation in the RNA Recognition Motif of CSTF2 Associated with Intellectual Disability in Humans Causes Defects in 3' End Processing

Petar N. Grozdanov, Elahe Masoumzadeh, Vera M. Kalscheuer…·Clinton C. MacDonald

20 citations

humanmouse

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