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Publications

A cross-sectional study to assess the clinical utility of modern visual function assessments in patients with inherited retinal disease: a mixed methods observational study protocol.

Taylor LJ. et al, (2023), BMC Ophthalmol, 23

A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery.

Major L. et al, (2023), Int J Mol Sci, 24

AAV2-Mediated Gene Therapy for Choroideremia: 5-Year Results and Alternate Anti-sense Oligonucleotide Therapy

Zhai Y. et al, (2023), American Journal of Ophthalmology, 248, 145 - 156

Erratum: Enhancement of Adeno-Associated Virus-Mediated Gene Therapy Using Hydroxychloroquine in Murine and Human Tissues.

Chandler LC. et al, (2023), Mol Ther Methods Clin Dev, 28

Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations

von Krusenstiern L. et al, (2023), JAMA Ophthalmology, 141, 275 - 275

Assessment of Scotopic Function in Rod-Cone Inherited Retinal Degeneration With the Scotopic Macular Integrity Assessment.

Jolly JK. et al, (2023), Transl Vis Sci Technol, 12

Future Perspectives of Prime Editing for the Treatment of Inherited Retinal Diseases.

Hansen S. et al, (2023), Cells, 12

Is RPGR-related retinal dystrophy associated with systemic disease? A case series

Han RC. et al, (2023), Ophthalmic Genetics, 1 - 8

Harnessing the potential of practice-based clinical optometry research in the United Kingdom.

Taylor LJ. et al, (2022), Ophthalmic Physiol Opt

Impaired glutamylation of RPGR ORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants

Cehajic-Kapetanovic J. et al, (2022), Proceedings of the National Academy of Sciences, 119

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

Buckley TMW. et al, (2022), American Journal of Ophthalmology Case Reports, 28

Response: 'letter to the editor: emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa'.

Martinez-Fernandez de la Camara C. et al, (2022), Expert Opin Emerg Drugs, 27, 449 - 450

Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient.

Elsayed MEAA. et al, (2022), Genes (Basel), 13

Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa

Martinez-Fernandez de la Camara C. et al, (2022), Expert Opinion on Emerging Drugs, 27, 431 - 443

Minicircle Delivery to the Neural Retina as a Gene Therapy Approach.

Staurenghi F. et al, (2022), Int J Mol Sci, 23

New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome.

Major L. et al, (2022), Int J Mol Sci, 23

Gene therapy for inherited retinal disease: long-term durability of effect.

Leroy BP. et al, (2022), Ophthalmic Res

Non-Viral Delivery of CRISPR/Cas Cargo to the Retina Using Nanoparticles: Current Possibilities, Challenges, and Limitations.

Salman A. et al, (2022), Pharmaceutics, 14

MERTK missense variants in three patients with retinitis pigmentosa.

Poli FE. et al, (2022), Ophthalmic Genet, 1 - 9

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

Feenstra HM. et al, (2022), Genes, 13, 1423 - 1423

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