Author

Laura Do Souto

Centre Hospitalier Universitaire de NantesORCID 0000-0003-1038-3458Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Benjamin CognéiD· 3 shared Stéphane BezieauiD· 3 shared Thomas BesnardiD· 3 shared Benjamin Dauriat· 2 shared Bertrand IsidoriD· 2 shared Frédéric EbsteiniD· 2 shared Sébastien KüryiD· 2 shared Stylianos E. AntonarakisiD· 2 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Benjamin CognéORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineMolecular PsychiatryPeer-reviewedSep 16, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

Wallid Deb, Thomas Besnard, Florence Desprez…·Sébastien Küry

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

DOI 10.1038/s41380-026-03877-w

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintDec 20, 2025

CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE

Thomas Besnard, Agnese Loda, Emma Kneuss…·Bertrand Isidor

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

1 citation

humanexperimental assay

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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

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