Author

Angélique Quartier

Centre National de la Recherche ScientifiqueORCID 0000-0002-2624-4869Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 3 Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 3 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1

Frequent Co-Authors

Amélie PitoniD· 3 shared Jean‐Louis MandeliD· 3 shared Jérémie CourraudiD· 3 shared Nathalie Drouot· 2 shared Aida Bytyci TelegrafiiD· 1 shared Alica M. GoldmaniD· 1 shared Alicia Boughton· 1 shared Amber N. V. RuigrokiD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetics

Amélie PitonORCID

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3 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

𝕏 PostBluesky

GeneticsbioRxivPreprintDec 4, 2019

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features.

Francesca Mattioli, Gaëlle Hayot, Nathalie Drouot…·Amélie Piton

The paper identifies de novo frameshift variants in NOVA2 causing a severe neurodevelopmental disorder with intellectual disability and autistic features, and shows altered RNA splicing and functional deficits.

DOI 10.1101/858696

humanzebrafish

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NeuroscienceMolecular PsychiatryPeer-reviewedAug 13, 2018

Sex-specific impact of prenatal androgens on intrinsic functional connectivity between social brain default mode subsystems

Michael Vincent Lombardo, Bonnie Auyeung B, Tiziano Pramparo…·Simon Baron‐Cohen

The paper investigates how prenatal androgens affect functional connectivity in social brain networks, finding sex-specific impacts on adolescent males.

67 citations

humanbulk RNA-seq

𝕏 PostBluesky