Author

Brigitte Gilbert‐Dussardier

Centre Hospitalier Universitaire de PoitiersORCID 0000-0001-7182-9914Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Amélie PitoniD· 1 shared Andrés HernándeziD· 1 shared Angélique QuartieriD· 1 shared Anne‐Sophie Jourdain· 1 shared Arthur SorliniD· 1 shared Audrey PutouxiD· 1 shared Barbara R. PoberiD· 1 shared Boris KereniD· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Amélie PitonORCID

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2 papers

Recent·Most cited

GeneticsMolecular PsychiatryPeer-reviewedNov 29, 2023

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

Jérémie Courraud, Camille Engel, Angélique Quartier…·Amélie Piton

This study investigates the molecular consequences of PQBP1 deficiency in Renpenning syndrome by analyzing gene expression and protein interactions, identifying dysregulated genes and a novel UPF3B isoform.

10 citations

humanbulk RNA-seq

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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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