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Ingeborgh van den Born

MD, PhD

20022025

Research activity per year

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  • Automated Cone Photoreceptor Detection in Adaptive Optics Flood Illumination Ophthalmoscopy

    Wooning, S., Heutinck, P. A. T., Liman, K., Hennekam, S., van Haute, M., Van den Broeck, F., Leroy, B. P., Sampson, D. M., Roshandel, D., Chen, F. K., Pelt, D. M., van den Born, L. I., Verhoeven, V. J. M., Klaver, C. C. W., Thiadens, A. A. H. J., Durand, M., Chateau, N., van Walsum, T., Andrade De Jesus, D. & Sanchez Brea, L., 1 May 2025, In: Ophthalmology Science. 5, 3

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

    Open Access

  • Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

    de Bruijn, S. E., van den Born, L. I., Derks, R., Haer-Wigman, L., O'Gorman, L., Cremers, F. P. M., van Beek , R., Hoischen, A., Roosing, S. & Neveling, K., 22 Apr 2025, In: npj Genomic Medicine. 33 (2025).

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

    Open Access

  • Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

    Hayman, T., Ovadia, S., Krishnan, J., Bouckaert, M., Panneman , D. M., English, M., Valensi, J., Cremers, F. P. M., Ben-Yosef, T., van den Born, L. I., de Bruijn, S. E., Roosing, S., Banin, E., Khateb, S., Ashery-Padan, R., Coppieters, F., Swaroop, A. & Sharon, D., 4 Apr 2025, (E-pub ahead of print) In: Genetics in Medicine. 27, 7, p. 101427

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

    Open Access

  • Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies

    Moekotte, L., Boer, J. H. D., Hiddingh, S., de Ligt , A., Nguyen, X.-T.-A., Hoyng, C. B., Inglehearn, C. F., McKibbin, M., Lamey, T. M., Thompson, J. A., Chen, F. K., McLaren, T. L., AlTalbishi, A., Panneman , D. M., Boonen, E. G. M., Banfi, S., Bocquet, B., Meunier, I., De Baere, E. & Koenekoop, R. K. & 14 others, Oldak, M., Rivolta, C., Roberts, L., Ramesar, R., Strupaite-Šileikiene , R., Kohl, S., Farrar, G. J., van Vugt , M., Setten, J. V., Roosing, S., van den Born, L. I., Boon, C. J. F., van Genderen, M. M. & Kuiper, J. J. W., 3 Feb 2025, In: Investigative Ophthalmology and Visual Science. 66, 2, p. 55

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

    Open Access

  • De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

    Quinodoz, M., Rodenburg, K., Cvackova , Z., Kaminska, K., de Bruijn, S. E., Iglesias-Romero, A. B., Boonen, E. G. M., Ullah, M., Zomer, N., Folcher, M., Bijon, J., Holtes, L. K., Tsang, S. H., Corradi, Z., Freund, K. B., Shliaga, S., Panneman , D. M., Hitti-Malin, R. J., Ali, M. & AlTalbishi , A. & 150 others, Andréasson , S., Ansari, G., Arno, G., Astuti, G. D. N., Ayuso, C., Ayyagari, R., Banfi, S., Banin, E., Barboni, M. T. S., Bauwens, M., Ben-Yosef, T., Birch, D. G., Biswas, P., Blanco-Kelly, F., Bocquet, B., Boon, C. J. F., Branham, K. E., Britten-Jones , A. C., Bujakowska, K. M., Cadena, E. L., Calzetti, G., Cancellieri , F., Cattaneo , L., Charbel Issa, P., Chadderton, N., Coutinho-Santos, L., Daiger, S. P., De Baere, E., de la Cerda, B., Roach, J. N. D., de Zaeytijd, J., Derks, R., Dhaenens, C.-M., Dudakova, L., Duncan, J. L., Farrar, G. J., Feltgen, N., Fernández-Caballero, L., Sallum, J. M. F., Gana , S., Garanto, A., Gardner , J. C., Gilissen, C., Goto, K., Gonzàlez-Duarte, R., Griffiths-Jones, S., Haack, T. B., Haer-Wigman, L., Hardcastle, A. J., Hayashi, T., Heon, E., Hoischen, A., Prener Holtan, J., Hoyng, C. B., Ibanez 4th , M. B. B., Inglehearn, C. F., Iwata, T., Jones, K., Kalatzis, V., Kamakari, S., Karali, M., Kellner, U., Knézy, K., Klaver, C. C. W., Koenekoop, R. K., Kohl, S., Kominami , T., Kühlewein, L., Lamey, T. M., Leroy, B. P., Martín-Gutiérrez, M. P., Martins, N., Mauring, L., Leibu, R., Lin, S., Liskova, P., Lopez, I., López-Rodríguez, V. R. D. J., Mahroo, O. A., Manes, G., McKibbin, M., McLaren, T. L., Meunier, I., Michaelides, M., Millan, J. M., Mizobuchi , K., Mukherjee, R., Nagy, Z. Z., Neveling, K., Oldak, M., Oorsprong, M., Pan, Y., Papachristou, A., Percesepe, A., Pfau , M., Pierce, E., Place, E., Ramesar, R., Andrée Rasquin , F., Rice , G. I., Roberts, L., Rodríguez-Hidalgo, M., Ruiz-Eddera, J., Sabir, A. H., Fujita Sajiki, A., Sánchez-Barbero, A. I., Sarma, A. S., Sangermano, R., Santos, C. M., Scarpato, M., Scholl, H. P. N., Sharon, D., Giovanna Signorini, S., Simonelli, F., Berta Sousa, A., Stefaniotou , M., Stingl, K., Suga, A., Sullivan, L. S., Szabó, V., Szaflik, J. P., Taurina, G., Toomes, C., Tran, V. H., Tsilimbaris, M. K., Tsoka, P., Vaclavik, V., Vajter, M., Valeina, S., Valente, E. M., Valentine, C., Valero , R., van Aerschot, J., van den Born, L. I., Roosing, S., Rivolta, C., Stanek, D., Ellingford, J. M., Lee, W., Cremers, F. P. M., Jacob, A. I., Landau, C., Zuleger, T., Zeuli , R., Zenteno, J. C., Yoshitake, K., Yioti , G. G., Wissinger, B., Whelan, L. & Webster, A. R., 6 Jan 2025, In: Human Genetics and Genomics Advances.

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

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