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E van Binsbergen

PhD, drs. ing.

    20032026

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    • A novel spliceosomopathy caused by de novo SF3B3 variants

      Musante, L., Janos, P., Pianigiani, G., Cappelli, S., Longo, A., Alves, C., Schwaibold, E. M., Wagner, M., Costain, G., Fridriksdottir, R., Stefansson, K., Sulem, P., Lichtenbelt, K. D., van Binsbergen, E., van Jaarsveld, R. H., Brusco, A., Pavinato, L., Biamino, E., Spano, A. & Hildebrandt, C. C. & 29 others, Chan, Y.-M., Groopman, E., Berkenstadt, M., Koboldt, D., Williamson, R., Brunner, H. G., Vissers, L. E., Torring, P. M., Hao, Q., Gelb, B. D., Goldmuntz, E., Reed, K., Bedoukian, E. C., Vecchio, D., Salzano, E., Piccione, M., Zanus, C., Mio, C., Eichler, E. E., Wang, T., Patterson, W. G., Butler, K. M., Piotrowski, M., Mercier, S., Cogné, B., Wentzensen, I. M., Buratti, E., Magistrato, A. & Faletra, F., 27 Mar 2026, In: Genome Medicine. 18, 1, 34.

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

      Open Access
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    • Correction to: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder (The American Journal of Human Genetics, (2023), 110, 6, (963-978), (S0002929723001325), 10.1016/j.ajhg.2023.04.008)

      Genomics England Research Consortium, 6 Nov 2025, In: American Journal of Human Genetics. 112, 11, p. 2814 1 p.

      Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

      Open Access
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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

      Open Access
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      89 Downloads (Pure)

    • 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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      31 Downloads (Pure)

    • 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

      Open Access
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      1 Downloads (Pure)
    View all 99 research outputs
    • 5 Participation in conference
    • 4 Participation in workshop, seminar, course
    • 2 Oral presentation
    View all 11 activities