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Ingeborgh van den Born

MD, PhD

20022023

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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 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

  • 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., Norel, J. O., Ingeborgh van den Born, L., 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 › Research › peer-review

  • Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

    Runhart, E. H., Dhooge, P., Meester-Smoor, M., Pas, J., Pott, J. W. R., van Leeuwen, R., Kroes, H. Y., Bergen, A. A., de Jong-Hesse, Y., Thiadens, A. A., van Schooneveld, M. J., van Genderen, M., Boon, C., Klaver, C., van den Born, L. I., Cremers, F. P. M. & Hoyng, C. B., Jun 2022, In: Acta Ophthalmologica. 100, 4, p. 395-402 8 p.

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

    Open Access

  • BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

    Fadaie, Z., Whelan, L., Dockery, A., Li, C. H. Z., van der Born, L. I., Hoyng, C. B., Gilissen, C., Corominas, J., Rowlands, C., Megaw, R., Lampe, A. K., Cremers, F. P. M., Farrar, G. J., Ellingford, J. M., Kenna, P. F. & Roosing, S., May 2022, In: Journal of Medical Genetics. 59, 5, p. 438-444 7 p.

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

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