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Ingeborgh van den Born

MD, PhD

20022023

Research activity per year

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  • Efficacy of carbonic anhydrase inhibitors on cystoid fluid collections and visual acuity in patients with X-linked retinoschisis

    Hensman, J., Hahn, L. C., van Schooneveld, M. J., Diederen, R. M. H., Ten Brink, J. B., Florijn, R. J., Bergen, A. A., Strubbe, I., Heutinck, P., van Genderen, M. M., Ingeborgh van den Born, L., Thiadens, A. A., de Zaeytijd, J., Leroy, B. P., Hoyng, C. B. & Boon, C. J. F., 15 Dec 2023, (E-pub ahead of print) In: Ophthalmology. Retina.

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

  • CRB1-Associated Retinal Dystrophy Patients Have Expanded Lewis Glycoantigen-Positive T Cells

    Moekotte, L., Kuiper, J. J. W., Hiddingh, S., Nguyen, X.-T.-A., Boon, C. J. F., van den Born, L. I., de Boer, J. H. & van Genderen, M. M., 3 Oct 2023, In: Investigative ophthalmology & visual science. 64, 13, p. 6

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

    Open Access

  • 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., 25 Sept 2023, (E-pub ahead of print) In: Acta Ophthalmologica.

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

  • 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, Girotto, 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 others, Vissers, 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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