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

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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

GeneticsAnnals of NeurologyPeer-reviewedJun 29, 2021

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Egidio Spinelli, Kyle R. Christensen, Emily M. Bryant…·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.

19 citations

humanwhole-exome sequencing

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