Author

Irena I. Bellinski

Northwestern UniversityORCID 0009-0001-7029-8063Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 Colleen Gleason· 1 shared Constance L. Smith‐HicksiD· 1 shared Divakar S. MithaliD· 1 shared Elizabeth E. GerardiD· 1 shared Emily M. BryantiD· 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

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