Author

Sébastien Moutton

InsermORCID 0000-0002-8942-6731Unclaimed 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 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:protein structure prediction· 1

Frequent Co-Authors

Amélie PitoniD· 2 shared Bertrand IsidoriD· 2 shared Frédéric Tran Mau‐ThemiD· 2 shared Jean‐Louis MandeliD· 2 shared Jérémie CourraudiD· 2 shared Nathalie Drouot· 2 shared Aida Bytyci TelegrafiiD· 1 shared Albert David· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amélie PitonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedAug 3, 2021

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand…·Amélie Piton

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

39 citations

humanDNA methylation

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