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Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies
Nguyen, X-T-A., Moekotte, L., Plomp, A. S., Bergen, A. A., van Genderen, M. M. & Boon, C. J. F., 1 Apr 2023, In: International journal of molecular sciences. 24, 8, 7481.Research output: Contribution to journal › Review article › Academic › peer-review
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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
de Bruijn, S. E., Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J., Kremer, H., Whelan, L., Plomp, A. S., Berger, W., Farrar, G. J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R. J., Weisschuh, N., Weener, M. E., Sharon, D., Pennings, R. J. E., Haer-Wigman, L., Hoyng, C. B., Nelen, M. R., & 7 others , Mar 2023, In: Genetics in medicine. 25, 3, 100345.Research output: Contribution to journal › Article › Academic › peer-review
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Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties
el Ghaleb, Y., Fernandez-Quintero, M. L., Campiglio, M., Liedl, K. R., Plomp, A. S., Bakker, D. P., Motazacker, M. M., Kortüm, F., Höing, A-S., Kutsche, K. & Flucher, B. E., 10 Feb 2023, In: Biophysical Journal. 122, 3S1, p. 107aResearch output: Contribution to journal › Article › Academic › peer-review
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