Concepedia

Kimberly Ezell

KE

3

Publications

119

Citations

3

H-Index

2023

Active since

Affiliations

Vanderbilt University Medical Center(Current)

National Human Genome Research Institute

Baylor College of Medicine

Harvard University

Stanford Medicine

Kimberly Ezell is an author at Vanderbilt University Medical Center.

ORCID

Publications per year

2023–2024

3

Publications

3

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

Rory J. Tinker, Lisa Bastarache, Kimberly Ezell et al. · American Journal of Medical Genetics Part A · 2023 · 16 citations · Full text

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

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · 2024 · 10 citations · Full text

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