Author

Kate V. Everett

St George's, University of LondonORCID 0000-0001-6700-1698Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Adam T. HigginsiD· 1 shared Anna V. Derrick· 1 shared Charlotte A. Jones· 1 shared Ed Dudley· 1 shared Ingrid Eileen SchefferiD· 1 shared Jeffrey S. DaviesiD· 1 shared Jonathan G.L. MullinsiD· 1 shared Mark I. ReesiD· 1 shared

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2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam T. HigginsORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 1, 2025

Pathogenic ultra-rare variants in SLC6A1, SLC6A11, GAD1 and GAD2 are new & recurrent GABAergic loci for GGE syndromes

Seo‐Kyung Chung, Kate V. Everett, Rhys Huw Thomas…·Mark I. Rees

The paper identifies ultra-rare variants in GABAergic genes associated with genetic generalized epilepsy syndromes and links their functional impact to epilepsy severity.

DOI 10.1101/2025.04.01.24316792

humanwhole-exome sequencing

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