Medical retina and Uveitis

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  • High Levels of C-Reactive Protein with Low Levels of Pentraxin 3 as Biomarkers for Central Serous Chorioretinopathy

    Bousquet, E., Chenevier-Gobeaux, C., Jaworski, T., Torres-Villaros, H., Zola, M., Mantel, I., Kowalczuk, L., Matet, A., Daruich, A., Zhao, M., Yzer, S. & Behar-Cohen, F., Sept 2023, In: Ophthalmology Science. 3, 3, p. 100278

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

    Open Access

  • 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: HGG advances. 4, 2, p. 100181

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

    Open Access

  • 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 othersVissers, L. E. L. M., van den Born, L. I., Gilissen, C., Cremers, F. P. M., Hoischen, A., Neveling, K. & Roosing, S., Mar 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25, 3, p. 100345

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

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