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E van Binsbergen

PhD, drs. ing.

    20032025

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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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    • 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

    • MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

      Gong, M., Li, J., Qin, Z., Machado Bressan Wilke, M. V., Liu, Y., Li, Q., Liu, H., Liang, C., Morales-Rosado, J. A., Cohen, A. S. A., Hughes, S. S., Sullivan, B. R., Waddell, V., van den Boogaard, M. J. H., van Jaarsveld, R. H., van Binsbergen, E., van Gassen, K. L., Wang, T., Hiatt, S. M. & Amaral, M. D. & 47 others, Kelley, W. V., Zhao, J., Feng, W., Ren, C., Yu, Y., Boczek, N. J., Ferber, M. J., Lahner, C., Elliott, S., Ruan, Y., Mignot, C., Keren, B., Xie, H., Wang, X., Popp, B., Zweier, C., Piard, J., Coubes, C., Mau-Them, F. T., Safraou, H., Innes, A. M., Gauthier, J., Michaud, J. L., Koboldt, D. C., Sylvie, O., Willems, M., Tan, W. H., Cogne, B., Rieubland, C., Braun, D., McLean, S. D., Platzer, K., Zacher, P., Oppermann, H., Evenepoel, L., Blanc, P., El Khattabi, L., Haque, N., Dsouza, N. R., Zimmermann, M. T., Urrutia, R., Klee, E. W., Shen, Y., Du, H., Rappaport, L., Liu, C. M. & Chen, X., 7 Nov 2024, In: American Journal of Human Genetics. 111, 11, p. 2392-2410 19 p.

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

      Open Access
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    • Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

      Otsuji, S., Nishio, Y., Tsujita, M., Rio, M., Huber, C., Antón-Plágaro, C., Mizuno, S., Kawano, Y., Miyatake, S., Simon, M., van Binsbergen, E., van Jaarsveld, R. H., Matsumoto, N., Cormier-Daire, V., J Cullen, P., Saitoh, S. & Kato, K., 1 Apr 2023, In: Journal of Medical Genetics. 60, 4, p. 359-367 9 p., 108602.

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

      Open Access
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      6 Downloads (Pure)

    • Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

      van Jaarsveld, R. H., Reilly, J., Cornips, M.-C., Hadders, M. A., Agolini, E., Ahimaz, P., Anyane-Yeboa, K., Bellanger, S. A., van Binsbergen, E., van den Boogaard, M.-J., Brischoux-Boucher, E., Caylor, R. C., Ciolfi, A., van Essen, T. A. J., Fontana, P., Hopman, S., Iascone, M., Javier, M. M., Kamsteeg, E.-J. & Kerkhof, J. & 39 others, Kido, J., Kim, H.-G., Kleefstra, T., Lonardo, F., Lai, A., Lev, D., Levy, M. A., Lewis, M. E. S., Lichty, A., Mannens, M. M. A. M., Matsumoto, N., Maya, I., McConkey, H., Megarbane, A., Michaud, V., Miele, E., Niceta, M., Novelli, A., Onesimo, R., Pfundt, R., Popp, B., Prijoles, E., Relator, R., Redon, S., Rots, D., Rouault, K., Saida, K., Schieving, J., Tartaglia, M., Tenconi, R., Uguen, K., Verbeek, N., Walsh, C. A., Yosovich, K., Yuskaitis, C. J., Zampino, G., Sadikovic, B., Alders, M. & Oegema, R., Jan 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25, 1, p. 49-62 14 p.

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

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