Author

Carolina I. Galaz-Montoya

Barrow Neurological InstituteORCID 0000-0002-9180-8202Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:mouse· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Organism:human· 1

Frequent Co-Authors

Caroline NavaiD· 2 shared Michael C. KrueriD· 2 shared Ahmed Aly IbrahimiD· 1 shared Alain VerloèsiD· 1 shared Albena Todorova· 1 shared Alekh ParanjapyeiD· 1 shared Alex KentsisiD· 1 shared Alex Michael PagnozziiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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2 shared papersNeuroscience

Caroline NavaORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

A transposase-derived gene required for human brain development

Luz Jubierre, Sara A. Lewis, Rodrigo Lopez Gutierrez, Makiko Yamada, Elias Rodríguez-Fos, Mercè Planas-Fèlix, Daniel Cameron, Phillip Demarest, Anika Nabila, Helen Mueller, Junfei Zhao, Paul Bergin, Casie Reed, Tzippora Chwat-Edelstein, Alex Michael Pagnozzi, , Alex Kentsis

This study identifies PGBD5 as a transposase-derived gene essential for brain development in humans and mice, with deficiency causing intellectual disability and seizures.

Science Advances · Jan 14, 2026Peer-reviewedNeuroscience

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder

Marissa J. Maroni, Melissa Barton, Katherine Lynch, Ashish R. Deshwar, Philip D. Campbell, Josephine Millard, Rachel Lee, Annastelle Cohen, Rili Ahmad, Alekh Paranjapye, Víctor Faùndes, Gabriela M. Repetto, Caoimhe S. McKenna, Amelle Shillington, Chanika Phornphutkul, , Erica Korb

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

medRxiv · Oct 31, 2024 · PreprintGenetic & Genomic Medicine