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.

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

X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients

Hahn, L. C., van Schooneveld, M. J., Wesseling, N. L., Florijn, R. J., ten Brink, J. B., Lissenberg-Witte, B. I., Strubbe, I., Meester-Smoor, M. A., Thiadens, A. A., Diederen, R. M., van Cauwenbergh, C., de Zaeytijd, J., Walraedt, S., de Baere, E., Klaver, C. C. W., Ossewaarde-van Norel, J., Ingeborgh van den Born, L., Hoyng, C. B., van Genderen, M. M., Sieving, P. A., & 3 othersLeroy, B. P., Bergen, A. A. & Boon, C. J. F., Feb 2021, In: Ophthalmology. 129, 2, p. 191-202 12 p.

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

Macular dystrophy and cone-rod dystrophy caused by mutations in the RP1 gene: Extending the RP1 disease spectrum

Verbakel, S. K., van Huet, R. A. C., den Hollander, A. I., Geerlings, M. J., Kersten, E., Klevering, B. J., Klaver, C. C. W., Plomp, A. S., Wesseling, N. L., Bergen, A. A. B., Nikopoulos, K., Rivolta, C., Ikeda, Y., Sonoda, K-H., Wada, Y., Boon, C. J. F., Nakazawa, T., Hoyng, C. B. & Nishiguchi, K. M., 1 Mar 2019, In: Investigative Ophthalmology and Visual Science. 60, 4, p. 1192-1203 12 p.

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