Author

Kimberly M. Ezell

Vanderbilt University Medical CenterORCID 0009-0005-7200-7644Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Assay:ATAC-seq· 1 Approach:Bayesian inference· 1 Assay:bulk RNA-seq· 1 Organism:Drosophila· 1

Frequent Co-Authors

Jonathan Adam BernsteiniD· 2 shared Lynette C. Rives· 2 shared Michael O’DonoghueiD· 2 shared Rodrigo MendeziD· 2 shared Thomas A. CassiniiD· 2 shared Undiagnosed Diseases Network· 2 shared A. N. Brooks· 1 shared Alan S. MaiD· 1 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jonathan Adam BernsteinORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

Daniel Greene, Rodrigo Mendez, Jonathan Gill Lees…·Ernest Turro

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

3 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintSep 27, 2024

Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models

Kristy L. Jay, Nikhita Gogate, Kimberly M. Ezell…·Michael F. Wangler

The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.

DOI 10.1101/2024.09.27.24314092

Drosophilaexperimental assay

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Genetic & Genomic MedicineNaturePeer-reviewedJul 11, 2024

✦ In-depth digest

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim…·David H. Viskochil

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

156 citationstop 1%

humanwhole-genome sequencing

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