Author

Lynette C. Rives

Vanderbilt University Medical Center

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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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:Bayesian inference· 1 Research Focus:differential expression· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Kimberly M. EzelliD· 2 shared Thomas A. CassiniiD· 2 shared Undiagnosed Diseases Network· 2 shared A. N. Brooks· 1 shared Alessandro BrusellesiD· 1 shared Andrew David MumfordiD· 1 shared Arjan BoumaniD· 1 shared Cecilia ManciniiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Kimberly M. EzellORCID

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2 papers

Recent·Most cited

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

Daniel Greene, Rodrigo Mendez, Jonathan Gill Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti, Federico Ferraro, Cecilia Mancini, Rachel Schot, Frank Sleutels, Enrico Bertini, Devon E. Bonner, Arjan Bouman, A. N. Brooks, Thomas A. Cassini, , 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.

Nature Genetics · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

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, Jonathan C. Andrews, Sharayu V. Jangam, Paige I. Hall, Hongling Pan, Kelvin Pham, Ryan J. German, Vanessa Gomez, Emily R. Jellinek, Eric A. Storch, Undiagnosed Diseases Network, Shinya Yamamoto, Oguz Kanca, , Michael F. Wangler

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

medRxiv · Sep 27, 2024 · PreprintGenetic & Genomic Medicine