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, L. I., Fajardy, I., Haer-Wigman, L., Kohl, S., Wissinger, B., Farrar, G. J., Ben-Yosef, T., Pfiffner, F. K., Berger, W., Weener, M. E., Dudakova, L., Liskova, P., Sharon, D., Salameh, M., Offenheim, A., Heon, E., & 30 othersGirotto, G., Gasparini, P., Morgan, A., Bergen, A. A., ten Brink, J. B., Klaver, C. C. W., Tranebjærg, L., Rendtorff, N. D., Vermeer, S., Smits, J. J., Pennings, R. J. E., Aben, M., Oostrik, J., Astuti, G. D. N., Corominas Galbany, J., Kroes, H. Y., Phan, M., van Zelst-Stams, W. A. G., Thiadens, A. A. H. J., Verheij, J. B. G. M., van Schooneveld, M. J., de Bruijn, S. E., Li, C. H. Z., Hoyng, C. B., Gilissen, C., Vissers, L. E. L. M., Cremers, F. P. M., Kremer, H., van Wijk, E. & Roosing, S., 13 Apr 2023, In: Human Genetics and Genomics Advances. 4, 2, 100181.

Research output: Contribution to journal › Article › Academic › peer-review

CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials

Nguyen, X-T-A., Talib, M., van Schooneveld, M. J., Wijnholds, J., van Genderen, M. M., Schalij-Delfos, N. E., Klaver, C. C. W., Talsma, H. E., Fiocco, M., Florijn, R. J., ten Brink, J. B., Cremers, F. P. M., Meester-Smoor, M. A., van den Born, L. I., Hoyng, C. B., Thiadens, A. A. H. J., Bergen, A. A. & Boon, C. J. F., 1 Feb 2022, In: American journal of ophthalmology. 234, p. 37-48 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

Sodium-Iodate Injection Can Replicate Retinal Degenerative Disease Stages in Pigmented Mice and Rats: Non-Invasive Follow-Up Using OCT and ERG

Koster, C. L., van den Hurk, K. T., ten Brink, J. B., Lewallen, C. F., Stanzel, B. V., Bharti, K. & Bergen, A. A., 1 Mar 2022, In: International journal of molecular sciences. 23, 6, 2918.

Research output: Contribution to journal › Article › Academic › peer-review

The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene

Hahn, L. C., Georgiou, M., Almushattat, H., van Schooneveld, M. J., de Carvalho, E. R., Wesseling, N. L., ten Brink, J. B., Florijn, R. J., Lissenberg-Witte, B. I., Strubbe, I., van Cauwenbergh, C., de Zaeytijd, J., Walraedt, S., de Baere, E., Mukherjee, R., McKibbin, M., Meester-Smoor, M. A., Thiadens, A. A. H. J., Al-Khuzaei, S., Akyol, E., & 11 othersLotery, A. J., van Genderen, M. M., Ossewaarde-van Norel, J., van den Born, L. I., Hoyng, C. B., Klaver, C. C. W., Downes, S. M., Bergen, A. A., Leroy, B. P., Michaelides, M. & Boon, C. J. F., Aug 2022, In: Ophthalmology Retina. 6, 8, p. 711-722 12 p.

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An alternative approach to produce versatile retinal organoids with accelerated ganglion cell development

Wagstaff, P. E., ten Asbroek, A. L. M. A., ten Brink, J. B., Jansonius, N. M. & Bergen, A. A. B., 1 Dec 2021, In: Scientific reports. 11, 1, 1101.

Research output: Contribution to journal › Article › Academic › peer-review