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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: bergen aa. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.
Karuntu JS, Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Klaver CCW, Meester-Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Bergen AA, van Nispen RMA, Boon CJF. Karuntu JS, et al. Among authors: bergen aa. Acta Ophthalmol. 2024 Jun;102(4):469-477. doi: 10.1111/aos.15769. Epub 2023 Sep 25. Acta Ophthalmol. 2024. PMID: 37749859
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.
Hensman J, Hahn LC, van Schooneveld MJ, Diederen RMH, Ten Brink JB, Florijn RJ, Bergen AA, Strubbe I, Heutinck P, van Genderen MM, van den Born LI, Thiadens AA, de Zaeytijd J, Leroy BP, Hoyng CB, Boon CJF. Hensman J, et al. Among authors: bergen aa. Ophthalmol Retina. 2024 Jun;8(6):600-606. doi: 10.1016/j.oret.2023.12.003. Epub 2023 Dec 15. Ophthalmol Retina. 2024. PMID: 38104928 Free article.
A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions.
Brands M, Balfoort B, Acharya K, Bergen A, Brunetti-Pierri N, Buijs M, Cellini B, Schultink P, Singh M, Schulze A, Timmer C, Valle D, Wanders R, Wartiovaara K, van Karnebeek C; GACR Bird's Eye View Consortium. Brands M, et al. Mol Genet Metab. 2024 Dec;143(4):108609. doi: 10.1016/j.ymgme.2024.108609. Epub 2024 Nov 7. Mol Genet Metab. 2024. PMID: 39522365 Free article. Review. No abstract available.
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. 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: bergen aa. 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.
217 results