Author

Abigail R. Moye

Baylor College of MedicineORCID 0000-0002-3698-7156Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:mouse· 2 Research Focus:cell signaling & trafficking· 1 Research Focus:cell type annotation· 1 Research Focus:development & morphogenesis· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Assay:imaging· 1

Frequent Co-Authors

Carlo RivoltaiD· 2 shared Alexandre Moulin· 1 shared Aline AntonioiD· 1 shared Andrea Zanetti· 1 shared Andrew Webster· 1 shared Anna M. Boguszewska‐ChachulskaiD· 1 shared Béatrice BocquetiD· 1 shared Carmen AyusoiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Carlo RivoltaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 31, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Zoéline Mars, Andrea Zanetti, Karolina Kamińska…·Isabelle Perrault

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

1 citation

mouseDNA methylation

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Cell BiologybioRxivPreprintJan 20, 2025

Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.

Abigail R. Moye, Michael A. Robichaux, Melina A. Agosto…·Theodore G. Wensel

This study investigates the role of CEP290 in photoreceptor ciliary structure and outer segment formation in mice, finding defects in ciliary necklace and Y-links, and altered distribution of transition zone proteins.

1 citation

mouseimaging

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