Author

Rafael Villasmil

National Institutes of HealthORCID 0000-0002-8956-2979Unclaimed 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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Approach:experimental assay· 1 Organism:zebrafish· 1

Frequent Co-Authors

Aman GeorgeiD· 1 shared Amelia NaikiD· 1 shared Bin GuaniD· 1 shared Brian P. BrooksiD· 1 shared Chelsea Bender· 1 shared Chloe AdamsiD· 1 shared Daniel Sanchez-MendozaiD· 1 shared David M. McGaugheyiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aman GeorgeORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedJul 3, 2025

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

Uma M Neelathi, Ehsan Ullah, Aman George…·Brian P. Brooks

This study identifies six rare variants in NR6A1 in six families with oculo-vertebral-renal syndrome, demonstrating their pathogenicity through in silico, cellular, and zebrafish experiments.

10 citationstop 3%

zebrafishexperimental assay

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