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Night vision restored in days after decades of congenital blindness.
Jacobson SG, Cideciyan AV, Ho AC, Roman AJ, Wu V, Garafalo AV, Sumaroka A, Krishnan AK, Swider M, Mascio AA, Kay CN, Yoon D, Fujita KP, Boye SL, Peshenko IV, Dizhoor AM, Boye SE. Jacobson SG, et al. iScience. 2022 Oct 4;25(10):105274. doi: 10.1016/j.isci.2022.105274. eCollection 2022 Oct 21. iScience. 2022. PMID: 36274938 Free PMC article.
Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes.
Cideciyan AV, Jacobson SG, Ho AC, Swider M, Sumaroka A, Roman AJ, Wu V, Russell RC, Viarbitskaya I, Garafalo AV, Schwartz MR, Girach A. Cideciyan AV, et al. Among authors: jacobson sg. Am J Ophthalmol Case Rep. 2023 Jun 20;32:101873. doi: 10.1016/j.ajoc.2023.101873. eCollection 2023 Dec. Am J Ophthalmol Case Rep. 2023. PMID: 37388818 Free PMC article.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ. Joshi RS, et al. Among authors: jacobson sg. Am J Hum Genet. 2016 Sep 1;99(3):555-566. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569549 Free PMC article.
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.
Mascio AA, Roman AJ, Cideciyan AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson SG, Barbur JL. Mascio AA, et al. Among authors: jacobson sg. Transl Vis Sci Technol. 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25. Transl Vis Sci Technol. 2023. PMID: 36692456 Free PMC article.
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial.
Cideciyan AV, Jacobson SG, Ho AC, Krishnan AK, Roman AJ, Garafalo AV, Wu V, Swider M, Sumaroka A, Van Cauwenbergh C, Russell SR, Drack AV, Leroy BP, Schwartz MR, Girach A. Cideciyan AV, et al. Among authors: jacobson sg. Ophthalmol Sci. 2022 Mar 2;2(2):100133. doi: 10.1016/j.xops.2022.100133. eCollection 2022 Jun. Ophthalmol Sci. 2022. PMID: 36249682 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: jacobson sg. 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.
370 results