Next-Generation Sequencing Applications for Inherited Retinal Diseases von Dockery, Adrian, Whelan, Laura, Humphries, Pete, Farrar, G. Jane

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Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy von Chadderton, Naomi, Palfi, Arpad, Millington-Ward, Sophia, Gobbo, Oliverio, Overlack, Nora, Carrigan, Matthew, O'Reilly, Mary, Campbell, Matthew, Ehrhardt, Carsten, Wolfrum, Uwe, Humphries, Peter, Kenna, Paul F, Farrar, G Jane

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SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration von Finnegan, Laura K, Chadderton, Naomi, Kenna, Paul F, Palfi, Arpad, Carty, Michael, Bowie, Andrew G, Millington-Ward, Sophia, Farrar, G Jane

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Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids von Lane, Amelia, Jovanovic, Katarina, Shortall, Ciara, Ottaviani, Daniele, Panes, Anna Brugulat, Schwarz, Nele, Guarascio, Rosellina, Hayes, Matthew J., Palfi, Arpad, Chadderton, Naomi, Farrar, G. Jane, Hardcastle, Alison J., Cheetham, Michael E.

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Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing von Stephenson, Kirk A J, Zhu, Julia, Dockery, Adrian, Whelan, Laura, Burke, Tomás, Turner, Jacqueline, O'Byrne, James J, Farrar, G Jane, Keegan, David J

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Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant von Stephenson, Kirk, Dockery, Adrian, Wynne, Niamh, Carrigan, Matthew, Kenna, Paul, Jane Farrar, G, Keegan, David

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AAV-NDI1 Therapy Provides Significant Benefit to Murine and Cellular Models of Glaucoma von Millington-Ward, Sophia, Palfi, Arpad, Shortall, Ciara, Finnegan, Laura K, Bargroff, Ethan, Post, Iris J M, Maguire, John, Irnaten, Mustapha, O Brien, Colm, Kenna, Paul F, Chadderton, Naomi, Farrar, G Jane

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Gene therapies for inherited retinal disorders von JANE FARRAR, G., MILLINGTON-WARD, SOPHIA, CHADDERTON, NAOMI, MANSERGH, FIONA C., PALFI, ARPAD

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Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations von Carrigan, Matthew, Duignan, Emma, Malone, Conor P. G., Stephenson, Kirk, Saad, Tahira, McDermott, Ciara, Green, Andrew, Keegan, David, Humphries, Peter, Kenna, Paul F., Farrar, G. Jane

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Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice von Palfi, Arpad, Yesmambetov, Adlet, Humphries, Pete, Hokamp, Karsten, Farrar, G. Jane

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RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models von Millington-Ward, Sophia, Chadderton, Naomi, Finnegan, Laura K, Post, Iris J M, Carrigan, Matthew, Nixon, Rachel, Humphries, Marian M, Humphries, Pete, Kenna, Paul F, Palfi, Arpad, Farrar, G Jane

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Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa von Millington-Ward, Sophia, Chadderton, Naomi, O'Reilly, Mary, Palfi, Arpad, Goldmann, Tobias, Kilty, Claire, Humphries, Marian, Wolfrum, Uwe, Bennett, Jean, Humphries, Peter, Kenna, Paul F, Farrar, G Jane

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A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics von Stephenson, Kirk A. J., Dockery, Adrian, O’Keefe, Michael, Green, Andrew, Farrar, G. Jane, Keegan, David J.

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Fibrotic Changes to Schlemm's Canal Endothelial Cells in Glaucoma von Kelly, Ruth A, Perkumas, Kristin M, Campbell, Matthew, Farrar, G Jane, Stamer, W Daniel, Humphries, Pete, O'Callaghan, Jeffrey, O'Brien, Colm J

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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases von Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne

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AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice von Palfi, Arpad, Chadderton, Naomi, Millington-Ward, Sophia, Post, Iris, Humphries, Pete, Kenna, Paul F., Farrar, G. Jane

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Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90) von Tam, Lawrence C.S., Kiang, Anna-Sophia, Campbell, Matthew, Keaney, James, Jane Farrar, G., Humphries, Marian M., Kenna, Paul F., Humphries, Pete

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Management of significant secondary genetic findings in an ophthalmic genetics clinic von Zhu, Julia, Stephenson, Kirk A J, Farrar, G. Jane, Turner, Jacqueline, O’Byrne, James J., Keegan, David

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Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells von Millington-Ward, Sophia, Chadderton, Naomi, Berkeley, Megan, Finnegan, Laura K., Hanlon, Killian S., Carrigan, Matthew, Humphries, Peter, Kenna, Paul F., Palfi, Arpad, Farrar, G. Jane

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experimental platform for systemic drug delivery to the retina von Campbell, Matthew, Nguyen, Anh T.H, Kiang, Anna-Sophia, Tam, Lawrence C.S, Gobbo, Oliviero L, Kerskens, Christian, Dhubhghaill, Sorcha Ni, Humphries, Marian M, Farrar, G.-Jane, Kenna, Paul F, Humphries, Peter

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