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Page 1
AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype.
Boon N, Lu X, Andriessen CA, Moustakas I, Buck TM, Freund C, Arendzen CH, Böhringer S, Boon CJF, Mei H, Wijnholds J. Boon N, et al. Among authors: boon cjf. Stem Cell Reports. 2023 Jun 13;18(6):1388. doi: 10.1016/j.stemcr.2023.05.008. Stem Cell Reports. 2023. PMID: 37315526 Free PMC article. No abstract available.
CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
Buck TM, Quinn PMJ, Pellissier LP, Mulder AA, Jongejan A, Lu X, Boon N, Koot D, Almushattat H, Arendzen CH, Vos RM, Bradley EJ, Freund C, Mikkers HMM, Boon CJF, Moerland PD, Baas F, Koster AJ, Neefjes J, Berlin I, Jost CR, Wijnholds J. Buck TM, et al. Among authors: boon n, boon cjf. Stem Cell Reports. 2023 Sep 12;18(9):1793-1810. doi: 10.1016/j.stemcr.2023.07.001. Epub 2023 Aug 3. Stem Cell Reports. 2023. PMID: 37541258 Free PMC article.
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
de Muijnck C, Haer-Wigman L, van Everdingen JAM, Lushchyk T, Heutinck PAT, van Dooren MF, Kievit AJA, Verhoeven VJM, Simon MEH, Wasmann RA, Notting IC, De Baere E, Walraedt S, De Zaeytijd J, Van den Broeck F, Leroy BP, Boon CJF, van Genderen MM. de Muijnck C, et al. Among authors: boon cjf. Sci Rep. 2024 Oct 3;14(1):22956. doi: 10.1038/s41598-024-74364-x. Sci Rep. 2024. PMID: 39363032 Free PMC article.
Generalizable Deep Learning for the Detection of Incomplete and Complete Retinal Pigment Epithelium and Outer Retinal Atrophy: A MACUSTAR Report.
de Vente C, Valmaggia P, Hoyng CB, Holz FG, Islam MM, Klaver CCW, Boon CJF, Schmitz-Valckenberg S, Tufail A, Saßmannshausen M, Sánchez CI; MACUSTAR Consortium. de Vente C, et al. Among authors: boon cjf. Transl Vis Sci Technol. 2024 Sep 3;13(9):11. doi: 10.1167/tvst.13.9.11. Transl Vis Sci Technol. 2024. PMID: 39235402 Free PMC article.
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT, van den Born LI, Vermeer M, Iglesias Gonzales AI, Hoyng CB, Pott JWR, Kroes HY, van Schooneveld MJ, Boon CJF, van Genderen MM, Plomp AS, de Jong-Hesse Y, van Egmond-Ebbeling MB, Hoefsloot LH, A Bergen A, Klaver CCW, Meester-Smoor MA, Thiadens AAHJ, Verhoeven VJM. Heutinck PAT, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2024 Aug 1;65(10):40. doi: 10.1167/iovs.65.10.40. Invest Ophthalmol Vis Sci. 2024. PMID: 39189993 Free PMC article.
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.
Hahn LC, van der Veen I, Georgiou M, van Schooneveld MJ, Ten Brink JB, Florijn RJ, Mahroo OA, de Carvalho ER, Webster AR, Bergen AA, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: boon cjf. Ophthalmol Retina. 2024 Aug 14:S2468-6530(24)00365-8. doi: 10.1016/j.oret.2024.08.003. Online ahead of print. Ophthalmol Retina. 2024. PMID: 39128788 Free article.
Pachychoroid disease: review and update.
Cheung CMG, Dansingani KK, Koizumi H, Lai TYY, Sivaprasad S, Boon CJF, Van Dijk EHC, Chhablani J, Lee WK, Freund KB. Cheung CMG, et al. Among authors: boon cjf. Eye (Lond). 2024 Aug 3. doi: 10.1038/s41433-024-03253-4. Online ahead of print. Eye (Lond). 2024. PMID: 39095470 Review.
237 results