Author

Sophie Nambot

CHU Dijon BourgogneORCID 0000-0002-9630-5049Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:protein structure prediction· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Antonio VitobelloiD· 2 shared Bertrand IsidoriD· 2 shared Kevin M. RostasyiD· 2 shared Abdolmajid Omrani· 1 shared Abdullah AlamriiD· 1 shared Aida Bytyci TelegrafiiD· 1 shared Alberto Fernández‐JaéniD· 1 shared Alexandra AfenjariD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetics

Antonio VitobelloORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintJan 19, 2026

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

Hendrikus J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc…·Philippe M. Campeau

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

DOI 10.64898/2026.01.15.698931

humanexperimental assay

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 12, 2022

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Erik Rosenhahn, Thomas James O’Brien, Maha Saad Zaki…·Konrad Platzer

17 citations

humanwhole-exome sequencing

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