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9 Publications listed
Synthesis, Biological Activity, and Molecular Dynamics Simulations of LNA-Charge Neutral Linkages for Enhanced Splice-Switching Antisense Oligonucleotides
Published 2025
Brain,
Delivery
University of Oxford
DOI: 10.1002/anie.202511386. Epub 2025 Sep 21.
Citation: Angew Chem Int Ed Engl. 2025 Nov 10;64(46):e202511386.
Mapping chromatin structure at base-pair resolution unveils a unified model of cis-regulatory element interactions
Published 2025
Blood
University of Oxford
DOI: 10.1016/j.cell.2025.10.013. Online ahead of print.
Citation: Cell. 2025 Nov 5:S0092-8674(25)01178-X.
Central Retinal Sensitivity Decline in RPGR-related Retinal Phenotypes
Purpose: To characterize the natural history of central retinal sensitivity decline in RPGR-associated retinopathy, and to evaluate and quantify phenotypic differences in disease progression using microperimetry-derived metrics.
Design: A retrospective cohort study SUBJECTS: 50 patients with genetically confirmed RPGR mutations (36 rod-cone, 14 cone-rod dystrophy [CORD]), contributing 357 microperimetry assessments.
Published 2024
RPGR-related retinal phenotypes,
Retinitis Pigmentosa
Eye
University of Oxford
DOI: 10.1016/j.ajo.2025.11.002. Online ahead of print.
Citation: 2025 Nov 12:S0002-9394(25)00585-9. (Am J Ophthalmol)
Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient
Published 2022
Sorsby Fundus Dystrophy (SFD)
Eye
TIMP3
University of Oxford
Citation: Case Reports, Genes (Basel). 2022 Nov 12;13(11):2103.