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Translational Retinal Research and Therapies.
Hardcastle AJ, Sieving PA, Sahel JA, Jacobson SG, Cideciyan AV, Flannery JG, Beltran WA, Aguirre GD. Hardcastle AJ, et al. Transl Vis Sci Technol. 2018 Sep 13;7(5):8. doi: 10.1167/tvst.7.5.8. eCollection 2018 Sep. Transl Vis Sci Technol. 2018. PMID: 30225158 Free PMC article.
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Cideciyan AV, et al. Among authors: hardcastle aj. Hum Gene Ther. 2013 Dec;24(12):993-1006. doi: 10.1089/hum.2013.153. Epub 2013 Oct 30. Hum Gene Ther. 2013. PMID: 24067079 Free PMC article.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S. Wissinger B, et al. Among authors: hardcastle aj. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27. Proc Natl Acad Sci U S A. 2022. PMID: 35759666 Free PMC article.
The cone dysfunction syndromes.
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M. Aboshiha J, et al. Among authors: hardcastle aj. Br J Ophthalmol. 2016 Jan;100(1):115-21. doi: 10.1136/bjophthalmol-2014-306505. Epub 2015 Mar 13. Br J Ophthalmol. 2016. PMID: 25770143 Free PMC article. Review.
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: hardcastle aj. Mol Vis. 2018 Aug 31;24:603-612. eCollection 2018. Mol Vis. 2018. PMID: 30210231 Free PMC article.
151 results