Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
Cehajic-Kapetanovic, Jasmina, Xue, Kanmin, Martinez-Fernandez de la Camara, Cristina, Nanda, Anika, Davies, Alexandra, Wood, Laura J, Salvetti, Anna Paola, Fischer, M Dominik, Aylward, James W, Barnard, Alun R, Jolly, Jasleen K, Luo, Edmond, Lujan, Brandon J, Ong, Tuyen, Girach, Aniz, Black, Graeme C M, Gregori, Ninel Z, Davis, Janet L, Rosa, Potyra R, Lotery, Andrew J, Lam, Byron L, Stanga, Paulo E, MacLaren, Robert E
Published in Nature medicine (01.03.2020)
Published in Nature medicine (01.03.2020)
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Journal Article
Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa
Fischer, M. Dominik, McClements, Michelle E., Martinez-Fernandez de la Camara, Cristina, Bellingrath, Julia-Sophia, Dauletbekov, Daniyar, Ramsden, Simon C., Hickey, Doron G., Barnard, Alun R., MacLaren, Robert E.
Published in Molecular therapy (02.08.2017)
Published in Molecular therapy (02.08.2017)
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Journal Article
Accurate Quantification of AAV Vector Genomes by Quantitative PCR
Martinez-Fernandez de la Camara, Cristina, McClements, Michelle E, MacLaren, Robert E
Published in Genes (19.04.2021)
Published in Genes (19.04.2021)
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Journal Article
Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina
Chandler, Laurel C., McClements, Michelle E., Yusuf, Imran H., Martinez-Fernandez de la Camara, Cristina, MacLaren, Robert E., Xue, Kanmin
Published in Molecular therapy. Methods & clinical development (10.09.2021)
Published in Molecular therapy. Methods & clinical development (10.09.2021)
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Journal Article
Molecular Strategies for RPGR Gene Therapy
Cehajic Kapetanovic, Jasmina, McClements, Michelle E, Martinez-Fernandez de la Camara, Cristina, MacLaren, Robert E
Published in Genes (04.09.2019)
Published in Genes (04.09.2019)
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Journal Article
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, Peter, Cottriall, Charles L, Taylor, Laura J, Jolly, Jasleen K, Cehajic-Kapetanovic, Jasmina, Yusuf, Imran H, Martinez-Fernandez de la Camara, Cristina, Shanks, Morag, Downes, Susan M, MacLaren, Robert E, Fischer, M Dominik
Published in Biomolecules (Basel, Switzerland) (05.10.2023)
Published in Biomolecules (Basel, Switzerland) (05.10.2023)
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Journal Article
Inclusion of PF68 Surfactant Improves Stability of rAAV Titer when Passed through a Surgical Device Used in Retinal Gene Therapy
Patrício, Maria I., Cox, Christopher I., Blue, Clare, Barnard, Alun R., Martinez-Fernandez de la Camara, Cristina, MacLaren, Robert E.
Published in Molecular therapy. Methods & clinical development (12.06.2020)
Published in Molecular therapy. Methods & clinical development (12.06.2020)
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Journal Article
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants
Cehajic-Kapetanovic, Jasmina, de la Camara, Cristina Martinez-Fernandez, Birtel, Johannes, Rehman, Salwah, McClements, Michelle E, Issa, Peter Charbel, Lotery, Andrew J
Published in Proceedings of the National Academy of Sciences - PNAS (06.12.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (06.12.2022)
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Journal Article
Response: 'letter to the editor: emerging gene therapy products for RPGR -associated X-linked retinitis pigmentosa'
Martinez-Fernandez de la Camara, Cristina, Cehajic-Kapetanovic, Jasmina, MacLaren, Robert E
Published in Expert opinion on emerging drugs (02.10.2022)
Published in Expert opinion on emerging drugs (02.10.2022)
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Journal Article
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping
Waldock, William J, Taylor, Laura J, Sperring, Sian, Staurenghi, Federica, Martinez-Fernandez de la Camara, Cristina, Whitfield, Jennifer, Clouston, Penny, Yusuf, Imran H, MacLaren, Robert E
Published in Ophthalmic genetics (01.04.2024)
Published in Ophthalmic genetics (01.04.2024)
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Journal Article
Is RPGR-related retinal dystrophy associated with systemic disease? A case series
Han, Ruofan Connie, Taylor, Laura J, Martinez-Fernandez de la Camara, Cristina, Henderson, Robert H, Thompson, Dorothy A, Cehajic-Kapetanovic, Jasmina, MacLaren, Robert E
Published in Ophthalmic genetics (01.12.2023)
Published in Ophthalmic genetics (01.12.2023)
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Journal Article
Re: Song et al., Toxicology and Pharmacology of an AAV Vector Expressing Codon-Optimized RPGR in RPGR-Deficient Rd9 Mice. Hum Gene Ther Clin Dev 2018; 29(4):188-197
MacLaren, Robert E, Fischer, M Dominik, De La Camara, Cristina Martinez-Fernandez
Published in Human gene therapy. Clinical development (01.03.2019)
Published in Human gene therapy. Clinical development (01.03.2019)
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Journal Article
A Quantitative Chloride Channel Conductance Assay for Efficacy Testing of AAV.BEST1
Wood, Shaun R, McClements, Michelle E, Martinez-Fernandez de la Camara, Cristina, Patrício, Maria I, Uggenti, Carolina, Sekaran, Sumathi, Barnard, Alun R, Manson, Forbes D, MacLaren, Robert E
Published in Human gene therapy. Part B. Methods (01.04.2019)
Published in Human gene therapy. Part B. Methods (01.04.2019)
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Journal Article
Impaired glutamylation of RPGR ORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants
Cehajic-Kapetanovic, Jasmina, Martinez-Fernandez de la Camara, Cristina, Birtel, Johannes, Rehman, Salwah, McClements, Michelle E, Charbel Issa, Peter, Lotery, Andrew J, MacLaren, Robert E
Published in Proceedings of the National Academy of Sciences - PNAS (06.12.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (06.12.2022)
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Journal Article
Developmental Expression of the Cell Cycle Regulator p16INK4a in Retinal Glial Cells: A Novel Marker for Immature Ocular Astrocytes?
Martinez-Fernandez de la Camara, Cristina, Storm, Tina, Salman, Ahmed, Burgoyne, Thomas, Rasmussen, Martin Qvist, Orlans, Harry O., Russell, Angela J., Davies, Stephen G., Barnard, Alun R., MacLaren, Robert E.
Published in The journal of histochemistry and cytochemistry (01.06.2023)
Published in The journal of histochemistry and cytochemistry (01.06.2023)
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Journal Article
Developmental Expression of the Cell Cycle Regulator p16 INK4a in Retinal Glial Cells: A Novel Marker for Immature Ocular Astrocytes?
Martinez-Fernandez de la Camara, Cristina, Storm, Tina, Salman, Ahmed, Burgoyne, Thomas, Rasmussen, Martin Qvist, Orlans, Harry O, Russell, Angela J, Davies, Stephen G, Barnard, Alun R, MacLaren, Robert E
Published in The journal of histochemistry and cytochemistry (01.06.2023)
Published in The journal of histochemistry and cytochemistry (01.06.2023)
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Journal Article