Author

Sarah Grotto

Assistance Publique – Hôpitaux de ParisORCID 0000-0003-2600-3819Unclaimed 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 Organism:zebrafish· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:protein structure prediction· 1 Approach:statistical model· 1

Frequent Co-Authors

Adèle FendleriD· 1 shared Agnès Guët· 1 shared Aida Bytyci TelegrafiiD· 1 shared Alica M. GoldmaniD· 1 shared Alicia BessoniD· 1 shared Alicia Boughton· 1 shared Amélie PitoniD· 1 shared Angélique QuartieriD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 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 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

humanzebrafish

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

𝕏 PostBluesky