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Ingeborgh van den Born

MD, PhD

20022022

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  • 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 journalArticleResearchpeer-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 journalArticleResearchpeer-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 journalArticleResearchpeer-review

  • CRB1-associated retinal dystrophies: a prospective natural history study in anticipation of future clinical trials

    Nguyen, X-T-A., Talib, M., van Schooneveld, M. J., Wijnholds, J., van Genderen, M. M., Schalij-Delfos, N. E., Klaver, C. C. W., Talsma, H. E., Fiocco, M., Florijn, R. J., Ten Brink, J. B., Cremers, F. P. M., Meester-Smoor, M. A., van den Born, L. I., Hoyng, C. B., Thiadens, A. A. H. J., Bergen, A. A. & Boon, C. J. F., Feb 2022, In: American Journal of Ophthalmology. 234, p. 37-48 12 p.

    Research output: Contribution to journalArticleResearchpeer-review

  • X-linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients

    Hahn, L. C., van Schooneveld, M. J., Wesseling, N. L., Florijn, R. J., Ten Brink, J. B., Lissenberg-Witte, B. I., Strubbe, I., Meester-Smoor, M. A., Thiadens, A. A., Diederen, R. M., van Cauwenbergh, C., de Zaeytijd, J., Walraedt, S., de Baere, E., Klaver, C. C. W., Norel, J. O., van den Born, L. I., Hoyng, C. B., van Genderen, M. M., Sieving, P. A., & 3 othersLeroy, B. P., Bergen, A. A. & Boon, C. J. F., Feb 2022, In: Ophthalmology. 129, 2, p. 191-202 12 p.

    Research output: Contribution to journalArticleResearchpeer-review