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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, 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 others , 13 Apr 2023, In: Human Genetics and Genomics Advances. 4, 2, 100181.Research output: Contribution to journal › Article › Academic › peer-review
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Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study
Karuntu, J. S., Nguyen, X-T-A., Talib, M., van Schooneveld, M. J., Wijnholds, J., van Genderen, M. M., Schalij-Delfos, N. E., Klaver, C. C. W., Meester-Smoor, M. A., van den Born, L. I., Hoyng, C. B., Thiadens, A. A. H. J., Bergen, A. A., van Nispen, R. M. A. & Boon, C. J. F., 2023, (E-pub ahead of print) In: Acta ophthalmologica.Research output: Contribution to journal › Article › Academic › peer-review
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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
van de Sompele, S., Small, K. W., Cicekdal, M. B., Soriano, V. C. L. P., D'haene, E., Shaya, F. S., Agemy, S., van der Snickt, T., Rey, A. D., Rosseel, T., van Heetvelde, M., Vergult, S., Balikova, I., Bergen, A. A., Boon, C. J. F., de Zaeytijd, J., Inglehearn, C. F., Kousal, B., Leroy, B. P., Rivolta, C., & 9 others , 3 Nov 2022, In: American journal of human genetics. 109, 11, p. 2029-2048 20 p.Research output: Contribution to journal › Article › Academic › peer-review
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