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Page 1
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM, Van den Broeck F, Boon CJF, Brouwers MCGJ, Diederen RMH, Dhillon P; GACR “Bird's Eye View” Consortium; van Hasselt PM, Jaeger B, Karuntu JS, Rennings AJM, van Spronsen FJ, Timmer C, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Schulze A, van Karnebeek CD, Brands MM. Balfoort BM, et al. Among authors: boon cjf. J Inherit Metab Dis. 2025 Jan;48(1):e12842. doi: 10.1002/jimd.12842. J Inherit Metab Dis. 2025. PMID: 39761806 Free PMC article.
Syndromic Retinitis Pigmentosa.
Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF. Karuntu JS, et al. Among authors: boon cjf. Prog Retin Eye Res. 2024 Dec 27:101324. doi: 10.1016/j.preteyeres.2024.101324. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 39733931 Free article. Review.
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.
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.
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.
Calzetti G, Schwarzwälder K, Ottonelli G, Kaminska K, Strauss RW, Baere E, Leroy BP, Audo I, Zeitz C, Cursiefen C, Stingl K, Boon CJF, Marques JP, Santos C, Ayuso Garcia C, Escher P, Cordeiro MF, D'Esposito F, Charbel Issa P, Lotery A, Lin S, Michaelides M, Rivolta C, Scholl HPN. Calzetti G, et al. Among authors: boon cjf. Ophthalmic Res. 2024;67(1):448-457. doi: 10.1159/000540607. Epub 2024 Jul 30. Ophthalmic Res. 2024. PMID: 39079514 Free article.
239 results