Author

Yaneth Perez-Rodriguez

University of California, Los Angeles

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· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Abigail S. Krall· 1 shared Aileen A. NavaiD· 1 shared Alexander Stephen ByrneiD· 1 shared Amélie PitoniD· 1 shared Cristiane BenincáiD· 1 shared Didier LacombeiD· 1 shared Eduardo Fidel TizzanoiD· 1 shared Harold PimenteliD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abigail S. Krall

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1 paper

Recent·Most cited

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes

Aileen A. Nava, Yaneth Perez-Rodriguez, Tzung‐Chien Hsieh, Alexander Stephen Byrne, Abigail S. Krall, Jerome Freudenberg, Niloufar Mansooralavi, Vijaya Pandey, Linsey Stiles, Cristiane Benincá, Jing-Mei Li, Sanaa Choufani, Meghna Singh, Shahida Moosa, Irene Valenzuela, , Valerie A. Arboleda

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

medRxiv · Aug 17, 2026 · PreprintGenetic & Genomic Medicine