Author

María-Victoria Hinckelmann

Centre National de la Recherche ScientifiqueORCID 0000-0003-0138-2613Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Aida Bytyci TelegrafiiD· 1 shared Alica M. GoldmaniD· 1 shared Alicia Boughton· 1 shared Aline DubosiD· 1 shared Amélie PitoniD· 1 shared Angélique QuartieriD· 1 shared Bertrand IsidoriD· 1 shared Candace Gamble· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Aida Bytyci TelegrafiORCID

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2 papers

Recent·Most cited

Developmental BiologybioRxivPreprintNov 9, 2023

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis via actomyosin dynamics deregulations

María-Victoria Hinckelmann, Aline Dubos, Victorine Artot…·Yann Hérault

This study shows that Dyrk1a regulates interneuron migration via actomyosin dynamics, leading to cortical GABAergic system defects and phenotypes seen in DYRK1A-haploinsufficiency syndrome.

2 citations

mouseexperimental assay

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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

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