Author

Guillermo Chacaltana

University of California, Santa Cruz

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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Biochemistry· 1 Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Assay:DNA methylation· 2 Research Focus:drug response / drug discovery· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Approach:deep learning· 1

Frequent Co-Authors

Jeremy R. SanfordiD· 3 shared Michael D. StoneiD· 3 shared Martin E GutierreziD· 2 shared Victor Tse· 2 shared Alex J. Fay· 1 shared Allison R. CheneyiD· 1 shared Angela Norie BrooksiD· 1 shared Anne Michele SlavotinekiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Jeremy R. SanfordORCID

Mutual co-authors in cluster

Author profile →

3 papers

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

OpenASO: RNA Rescue--designing splice-modulating antisense oligonucleotides through community science

Victor Tse, Martin Guiterrez, Jill Townley, Jonathan Romano, Jennifer Pearl, Guillermo Chacaltana, Eterna Participants, Rhiju Das, Jeremy R. Sanford, Michael D. Stone

This study uses community science and RNA structure prediction to design splice-modulating ASOs that enhance exon 16 splicing in a hemophilia A model.

RNA · May 27, 2025Peer-reviewedBiochemistry

Rescue of blood coagulation Factor VIII exon-16 mis-splicing by antisense oligonucleotides

Victor Tse, Guillermo Chacaltana, Martin E Gutierrez, Nicholas M. Forino, Arcelia Gonzalez Jimenez, Hanzhang Tao, H. Phong, Catherine Oh, Priyanka Chary, Isabel Quesada, Antonia Hamrick, Sophie Hyesuk Lee, Michael D. Stone, Jeremy R. Sanford

The paper identifies a three-way junction structure in intron 15 that affects F8 pre-mRNA splicing and shows that antisense oligonucleotides targeting this structure can rescue splicing defects in Hemophilia A.

bioRxiv · Mar 31, 2023 · PreprintMolecular Biology