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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. 2023 Dec 15:S2468-6530(23)00647-4. doi: 10.1016/j.oret.2023.12.003. Online ahead of print. Ophthalmol Retina. 2023. PMID: 38104928 Free article.
Vision on gyrate atrophy: why treat the eye?
Bergen AA, Buijs MJ, Ten Asbroek AL, Balfoort BM, Boon CJ; Dutch GACR “Bird’s Eye View” Consortium; Brands MM, Wanders RJ, van Karnebeek CD, Houtkooper RH. Bergen AA, et al. EMBO Mol Med. 2024 Jan;16(1):4-7. doi: 10.1038/s44321-023-00001-1. Epub 2023 Dec 14. EMBO Mol Med. 2024. PMID: 38177529 Free PMC article.
212 results