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E van Binsbergen

PhD, drs. ing.

    20032025

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    • Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

      van Oirsouw, A. S. E., Nedbalova, P., Hancarova, M., Prchal, J., Prchalova, D., Vlckova, M., Bendova, S., Monaghan, K. G., Dyer, L. M., Chen, Y., Carere, D. A., Te Bogt, E. A. M., Fisher, H., Scheuerle, A. E., Riley, S., Jain, M., Mu, W., Bodurtha, J. N., van Eerde, A. M. & Stokman, M. F. & 59 others, Longo, N., Balasubramanian, M., Spiller, M., Costain, G., von der Lippe, C., Tveten, K., Jortveit, M., Holla, Ø. L., Isidor, B., Cogné, B., Glinton, K. E., Vuocolo, B., Sierra, R. A., Angle, B., Bontempo, K., Koop, K., Rabin, R., Pappas, J., Staffenberg, D. A., Joset, P., Miny, P., Filges, I., Alali, A., Vitalone, K., Rosenfeld, J. A., Bi, W., Bradbrook, S., Perrier, R., Ramanathan, S., Gold, J.-A., Bralo, M. P., Gómez-Cano, M. Á., Olney, A. H., Nielsen, S., Ziegler, A., Bonneau, D., Prouteau, C., Bruel, A.-L., Caille-Benigni, C., Lambert, L., Yu, A. C., Robin, N. H., Goodloe, D., Fischer, J., Porrmann, J., Hennig, Y. D., Jamra, R. A., Herman, I., Johnson, I. R., Hérissant, L., Jouret, G., van Gassen, K. L. I., van Binsbergen, E., van der Zwaag, B., Kamermans, A., Oegema, R., Sedlacek, Z., Fenckova, M. & van Jaarsveld, R. H., Nov 2025, In: Genetics in medicine : official journal of the American College of Medical Genetics. 27, 11, 101555.

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

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    • Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype

      Record, C. J., O'Connor, A., Verbeek, N. E., van Rheenen, W., Zamba Papanicolaou, E., Peric, S., Ligthart, P. C., Skorupinska, M., van Binsbergen, E., Campeau, P. M., Ivanovic, V., Hennigan, B., McHugh, J. C., Blake, J. C., Murakami, Y., Laura, M., Murphy, S. M. & Reilly, M. M., Feb 2025, In: Annals of Neurology. 97, 2, p. 388-396 9 p.

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

      Open Access
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    • Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy

      Kato, K., Nishio, Y., McMillan, K. J., Al-Maraghi, A., Kroes, H. Y., Abdel-Hamid, M. S., Jones, E., Shaw, S., Yoshida, A., Otsuji, S., Murofushi, Y., Aamer, W., Bhat, A. A., AlRayahi, J., Al-Shabeeb Akil, A. S., Aliyev, E., van Binsbergen, E., Janssen, E. J., Mehrin, K. M. & Oishi, H. & 19 others, Kobayashi, R., Horii, T., Hatada, I., Saito, A., Hattori, M., Kawano, Y., Lewis, P. A., Heesom, K. J., Takarada, T., Sawamoto, K., Matsushita, M., Ogi, T., Butkovic, R., Danson, C., Wilkinson, K. A., Fakhro, K. A., Zaki, M. S., Saitoh, S. & Cullen, P. J., 2 Jul 2025, In: Science translational medicine. 17, 805, eadt2426.

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

    • Significance of incidental copy number variants in the Duchenne muscular dystrophy gene

      Ginjaar, I. B., Kriek, M., Hoffer, M. J. V., Oegema, R., van Binsbergen, E., Diderich, K. E. M., van Zutven, L. J. C. M., Duijkers, F. A. M., Knegt, A. C., Erasmus, C. E., de Leeuw, N., Verheij, J. B. G. M., Dijkhuizen, T. & van Duyvenvoorde, H. A., Sept 2025, In: Neuromuscular Disorders. 54, 106219.

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

      Open Access
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      4 Downloads (Pure)

    • Brain malformations and seizures by impaired chaperonin function of TRiC

      Kraft, F., Rodriguez-Aliaga, P., Yuan, W., Franken, L., Zajt, K., Hasan, D., Lee, T.-T., Flex, E., Hentschel, A., Innes, A. M., Zheng, B., Julia Suh, D. S., Knopp, C., Lausberg, E., Krause, J., Zhang, X., Trapane, P., Carroll, R., McClatchey, M. & Fry, A. E. & 67 others, Wang, L., Giesselmann, S., Hoang, H., Baldridge, D., Silverman, G. A., Radio, F. C., Bertini, E., Ciolfi, A., Blood, K. A., de Sainte Agathe, J.-M., Charles, P., Bergant, G., Čuturilo, G., Peterlin, B., Diderich, K., Streff, H., Robak, L., Oegema, R., van Binsbergen, E., Herriges, J., Saunders, C. J., Maier, A., Wolking, S., Weber, Y., Lochmüller, H., Meyer, S., Aleman, A., Polavarapu, K., Nicolas, G., Goldenberg, A., Guyant, L., Pope, K., Hehmeyer, K. N., Monaghan, K. G., Quade, A., Smol, T., Caumes, R., Duerinckx, S., Depondt, C., Van Paesschen, W., Rieubland, C., Poloni, C., Guipponi, M., Arcioni, S., Meuwissen, M., Jansen, A. C., Rosenblum, J., Haack, T. B., Bertrand, M., Gerstner, L., Magg, J., Riess, O., Schulz, J. B., Wagner, N., Wiesmann, M., Weis, J., Eggermann, T., Begemann, M., Roos, A., Häusler, M., Schedl, T., Tartaglia, M., Bremer, J., Pak, S. C., Frydman, J., Elbracht, M. & Kurth, I., Nov 2024, In: Science (New York, N.Y.). 386, 6721, p. 516-525 10 p.

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

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    • 5 Participation in conference
    • 4 Participation in workshop, seminar, course
    • 2 Oral presentation
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