Author

Emily M. Bryant

Lurie Children's HospitalORCID 0000-0001-5393-6687Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Gemma L. CarvilliD· 2 shared J Gordon MillichapiD· 2 shared Alicia Guemez‐GamboaiD· 1 shared Alison M. MuiriD· 1 shared Amy SchneideriD· 1 shared Andrea AccogliiD· 1 shared Angus Clark NairniD· 1 shared Anna ChasseventiD· 1 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetics

Gemma L. CarvillORCID

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2 papers

Recent·Most cited

GeneticsBrainPeer-reviewedDec 16, 2021

Determining pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

Jeffrey Dennis Calhoun, Miriam C. Aziz, Hannah C. Happ…·Gemma L. Carvill

The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky

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

𝕏 PostBluesky