Author

Egidio Spinelli

Western University

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

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alicia Guemez‐GamboaiD· 1 shared Alison M. MuiriD· 1 shared Amy SchneideriD· 1 shared Angus Clark NairniD· 1 shared Annalisa VetroiD· 1 shared Berkley Schmidt· 1 shared Carmen BarbaiD· 1 shared Christelle Moufawad El AchkariD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alicia Guemez‐GamboaORCID

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1 paper

Recent·Most cited

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Egidio Spinelli, Kyle R. Christensen, Emily M. Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir, Jessica Giannelli, Rebecca Okashah Littlejohn, Elizabeth R. Roeder, Berkley Schmidt, William G. Wilson, Elysa J. Marco, Kazuhiro Iwama, Satoko Kumada, Tiziana Pisano, , Gemma L. Carvill

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

Annals of Neurology · Jun 29, 2021Peer-reviewedGenetics