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Publications

Gene Therapies in Clinical Development to Treat Retinal Disorders

McClements ME. et al, (2024), Molecular Diagnosis & Therapy

A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping

Waldock WJ. et al, (2024), Ophthalmic Genetics, 45, 210 - 217

Gene Therapy Trial on X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

de la Camara CM-F. et al, (2024), Essentials in Ophthalmology, 271 - 283

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center

Kiraly P. et al, (2023), Biomolecules, 13, 1484 - 1484

Developmental Expression of the Cell Cycle Regulator p16INK4a in Retinal Glial Cells: A Novel Marker for Immature Ocular Astrocytes?

Martinez-Fernandez de la Camara C. et al, (2023), Journal of Histochemistry & Cytochemistry, 71, 301 - 320

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

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

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

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

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

Mirtron-mediated RNA knockdown/replacement therapy for the treatment of dominant retinitis pigmentosa

Orlans HO. et al, (2021), Nature Communications, 12

Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina

Chandler LC. et al, (2021), Molecular Therapy - Methods & Clinical Development, 22, 52 - 65

Accurate Quantification of AAV Vector Genomes by Quantitative PCR

Martinez-Fernandez de la Camara C. et al, (2021), Genes, 12, 601 - 601

Inclusion of PF68 Surfactant Improves Stability of rAAV Titer when Passed through a Surgical Device Used in Retinal Gene Therapy.

Patrício MI. et al, (2020), Mol Ther Methods Clin Dev, 17, 99 - 106

Retinal Gene Therapy in X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR: Results at 6 Months in a First in Human Clinical Trial

Cehajic-Kapetanovic J. et al, (2020), MOLECULAR THERAPY, 28, 1 - 1

CRISPR Interference–Potential Application in Retinal Disease

Peddle CF. et al, (2020), International Journal of Molecular Sciences, 21, 2329 - 2329

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR

Cehajic-Kapetanovic J. et al, (2020), Nature Medicine, 26, 354 - 359

RPGR gene therapy presents challenges in cloning the coding sequence

Martinez-Fernandez De La Camara C. et al, (2020), Expert Opinion on Biological Therapy, 20, 63 - 71

Molecular Strategies for RPGR Gene Therapy.

Cehajic Kapetanovic J. et al, (2019), Genes (Basel), 10

Fundus autofluorescence abnormalities and microglia/macrophage activation in the Rpgr-deficient mouse

Staurenghi F. et al, (2019), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 60

In vitro expression model for AAV2.VMD2.BEST1 gene therapy vectors

dela Camara CM-F. et al, (2019), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 60

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