Author

Laurent Guibaud

Hôpital Necker-Enfants MaladesORCID 0000-0002-5747-6654Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Assay:imaging· 1 Research Focus:spatial domain detection· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Adèle FendleriD· 1 shared Agnès Guët· 1 shared Alicia BessoniD· 1 shared Anne‐Louise LeuteneggeriD· 1 shared Antoine FraissenoniD· 1 shared Audrey PutouxiD· 1 shared Audric CologneiD· 1 shared Caroline MichotiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adèle FendlerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of RadiologyPeer-reviewedJul 24, 2026

Radiological Evaluation of the Natural History of PIK3CA-Related Overgrowth Spectrum (PROS)

Antoine Fraissenon, G Morin, Nathalie Boddaert…·Guillaume Canaud

This study describes the natural history of PROS using MRI scans, showing most lesions enlarge over time with progression continuing into adulthood.

DOI 10.1016/j.ejrad.2026.113108

𝕏 PostBluesky

Genetic & Genomic MedicineProceedings of the National Academy of SciencesPeer-reviewedFeb 21, 2023

Deficiency of U4atac snRNA secondarily results in ciliary defects

Deepak Khatri, Audrey Putoux, Audric Cologne…·Marion Delous

The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.

23 citations

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