Author

Louise Goujon

Assistance Publique – Hôpitaux de ParisORCID 0000-0003-2361-9909Unclaimed 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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Approach:experimental assay· 2 Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christèle DubourgiD· 2 shared Abhilasha JakhariD· 1 shared Alexandra AfenjariD· 1 shared Alice GoldenbergiD· 1 shared Alissa M. D’GamaiD· 1 shared Almuth CaliebeiD· 1 shared Amandine Etcheverry· 1 shared Amandine SantiniiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christèle DubourgORCID

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2 papers

Recent·Most cited

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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GeneticsbioRxivPreprintApr 17, 2022

Gene editing is suitable to treat GM1 Gangliosidosis: a proof-of-concept study

Delphine Leclerc, Louise Goujon, Sylvie Jaillard…·David Gilot

This study shows that adenine base editors can correct 41% of GLB1 pathogenic SNVs in patient-derived fibroblasts, restoring β-gal activity without significant off-target effects.

2 citations

humanexperimental assay

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