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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE. Cehajic-Kapetanovic J, et al. Among authors: lotery aj. Nat Med. 2020 Mar;26(3):354-359. doi: 10.1038/s41591-020-0763-1. Epub 2020 Feb 24. Nat Med. 2020. PMID: 32094925 Free PMC article. Clinical Trial.
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD. Davidson AE, et al. Among authors: lotery aj. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853238 Free PMC article.
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC. MacLaren RE, et al. Among authors: lotery aj. Lancet. 2014 Mar 29;383(9923):1129-37. doi: 10.1016/S0140-6736(13)62117-0. Epub 2014 Jan 16. Lancet. 2014. PMID: 24439297 Free PMC article. Clinical Trial.
Visual Acuity after Retinal Gene Therapy for Choroideremia.
Edwards TL, Jolly JK, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Xue K, Downes SM, Simunovic MP, Seabra MC, MacLaren RE. Edwards TL, et al. Among authors: lotery aj. N Engl J Med. 2016 May 19;374(20):1996-8. doi: 10.1056/NEJMc1509501. Epub 2016 Apr 27. N Engl J Med. 2016. PMID: 27120491 Free PMC article. No abstract available.
Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.
Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patrício MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE. Xue K, et al. Among authors: lotery aj. Nat Med. 2018 Oct;24(10):1507-1512. doi: 10.1038/s41591-018-0185-5. Epub 2018 Oct 8. Nat Med. 2018. PMID: 30297895 Free PMC article.
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
Khan AH, Sutton J, Cree AJ, Khandhadia S, De Salvo G, Tobin J, Prakash P, Arora R, Amoaku W, Charbel Issa P, MacLaren RE, Bishop PN, Peto T, Mohamed Q, Steel DH, Sivaprasad S, Bailey C, Menon G, Kavanagh D, Lotery AJ. Khan AH, et al. Among authors: lotery aj. Hum Mutat. 2021 Sep;42(9):1139-1152. doi: 10.1002/humu.24242. Epub 2021 Jun 29. Hum Mutat. 2021. PMID: 34153144 Free PMC article.
401 results