Author

J.Y. Lee

University of California, San Francisco

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Biology Disciplines

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Genetic & Genomic Medicine· 1

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alex J. Fay· 1 shared Allison R. CheneyiD· 1 shared Angela Norie BrooksiD· 1 shared Anne Michele SlavotinekiD· 1 shared Brandon Saint-JohniD· 1 shared Dennis Mulligan· 1 shared Guillermo Chacaltana· 1 shared Holly C. BealeiD· 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

Alex J. Fay

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1 paper

Recent·Most cited

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved

Holly C. Beale, Victor Tse, J.Y. Lee, Jon Akutagawa, Yusuph Mavura, Brandon Saint-John, Allison R. Cheney, Dennis Mulligan, Guillermo Chacaltana, Martin E Gutierrez, Jessica Tenney, Joseph T.C. Shieh, Pierre‐Marie Martin, Tiffany Yip, Uğur Hodoğlugil, , Anne Michele Slavotinek

The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.

Human Genetics · May 6, 2026Peer-reviewedGenetic & Genomic Medicine