Author

Elisabeth Kaplan

University of Illinois Chicago

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

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

Frequent Co-Authors

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

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2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Aida Bytyci TelegrafiORCID

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1 paper

Recent·Most cited

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, Bertrand Isidor, Jérémie Courraud, Frédéric Tran Mau‐Them, Chantal Sellier, María-Victoria Hinckelmann, Alica M. Goldman, Aida Bytyci Telegrafi, Alicia Boughton, Candace Gamble, Sébastien Moutton, Angélique Quartier, Nolwenn Jean‐Marçais, , 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.

bioRxiv · Dec 4, 2019 · PreprintGenetics