Author

Colleen Gleason

Northwestern University

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

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Andrea AccogliiD· 1 shared Anna ChasseventiD· 1 shared Annalaura TorellaiD· 1 shared Constance L. Smith‐HicksiD· 1 shared Divakar S. MithaliD· 1 shared Elizabeth E. GerardiD· 1 shared Emily M. BryantiD· 1 shared Eva Maria Christina SchwaiboldiD· 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

Andrea AccogliORCID

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1 paper

Recent·Most cited

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, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller, Emily M. Bryant, Divakar S. Mithal, Irena I. Bellinski, Lisa M. Kinsley, Mona Grimmel, Eva Maria Christina Schwaibold, Constance L. Smith‐Hicks, , 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.

Brain · Dec 16, 2021Peer-reviewedGenetics