Author

Naomi Chadderton

Trinity College DublinORCID 0000-0002-1684-1598Unclaimed 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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Organism:human· 2 Approach:experimental assay· 1

Frequent Co-Authors

Alison J. HardcastleiD· 2 shared Gwyneth Jane FarrariD· 2 shared Alaa AlTalbishiiD· 1 shared Alejandro GarantoiD· 1 shared Alexander HoischeniD· 1 shared Alexis Ceecee Britten‐JonesiD· 1 shared Amelia Lane· 1 shared Ana Belén Iglesias-RomeroiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alison J. HardcastleORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 6, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková…·Gaël Manès

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

15 citations

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NeuroscienceStem Cell ReportsPeer-reviewedJun 11, 2020

Modelling and rescue of RP2 Retinitis Pigmentosa using iPSC Derived Retinal Organoids

Amelia Lane, Katarina Jovanovic, Ciara Shortall…·Michael E. Cheetham

This study uses iPSC-derived retinal organoids to model RP2 retinitis pigmentosa and shows that AAV-mediated gene augmentation can rescue photoreceptor degeneration.

183 citationstop 1%

humanexperimental assay

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