Author

Candace Gamble

Cook Children's Medical Center

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

Biology Disciplines

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Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Organism:human· 1

Frequent Co-Authors

A. GélotiD· 1 shared Aida Bytyci TelegrafiiD· 1 shared Alfonso RepresaiD· 1 shared Alica M. GoldmaniD· 1 shared Alicia Boughton· 1 shared Amélie PitoniD· 1 shared Andreas BosioiD· 1 shared Angélique QuartieriD· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperNeuroscience

A. GélotORCID

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2 papers

Recent·Most cited

Disruption of the transcription factor NEUROD2 causes an autism syndrome via cell-autonomous defects in cortical projection neurons

Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Surajit Sahu, Fabienne Schaller, Arthur Loubat, Léonard Hérault, Stéphane Gaillard, Mélanie Cahuc, Emilie Pallesi‐Pocachard, Aurélie Montheil, Andreas Bosio, Jill Anne Rosenfeld, , Antoine de Chevigny

This study identifies NEUROD2 mutations linked to ASD and intellectual disability, showing their role in cortical development and function through mouse models.

bioRxiv · Feb 14, 2020 · PreprintNeuroscience

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