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Nienke Verbeek

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Nienke Verbeek

dr.

    20062026

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    • Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

      Drost, M., Dekker, J., Ferraro, F., Kasteleijn, E., Verschuren, M., Kroon, E., Douben, H. C. W., Vogt, I., van Unen, L., Hoogeveen-Westerveld, M., Elfferich, P., Schot, R., Calandrini, C., Korpershoek, E., Sleutels, F., Brüggenwirth, H. B. R., Hollink, I. R., Meerstein-Kessel, L., Hoefsloot, L. H. & van Slegtenhorst, M. & 32 others, Wilke, M., Weerts, M. J. A., van Minkelen, R., Wagner, A., Bouman, A., van Paassen, B. W., Verheijen-Mancini, G. M., Laar, I. M. B. H. V. D., Kievit, J. A., Verhagen, J. M. A., Stuurman, K. E., Kaat, L. D., van Dooren, M. F., Wessels, M. W., Oldenburg, R. A., Zeidler, S., van Dijk, T., Barakat, T. S., Verhoeven, V. J. M., van Bever, Y., van Ierland, Y., Bannink, N., van Koningsbruggen, S., Lakeman, P., Leeuwen, L., Verbeek, N. E., Sinnema, M., Heijligers, M., van Asperen, C. J., Saris, J. J., Nellist, M. & van Ham, T. J., 15 Jan 2026, In: HGG advances. 7, 1, 100521.

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

      Open Access
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      6 Downloads (Pure)

    • HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

      Houdayer, C., Phillips, A. M., Chabbert, M., Bourreau, J., Maroofian, R., Houlden, H., Richards, K., Saadi, N. W., Dad'ová, E., Van Bogaert, P., Rupin, M., Keren, B., Charles, P., Smol, T., Riquet, A., Pais, L., O'Donnell-Luria, A., VanNoy, G. E., Bayat, A. & Møller, R. S. & 33 others, Olofsson, K., Jamra, R. A., Syrbe, S., Dasouki, M., Seaver, L. H., Sullivan, J. A., Shashi, V., Alkuraya, F. S., Poss, A. F., Spence, J. E., Schnur, R. E., Forster, I. C., Mckenzie, C. E., Simons, C., Wang, M., Snell, P., Kothur, K., Buckley, M., Roscioli, T., Elserafy, N., Dauriat, B., Procaccio, V., Henrion, D., Lenaers, G., Colin, E., Verbeek, N. E., Van Gassen, K. L., Legendre, C., Bonneau, D., Reid, C. A., Howell, K. B., Ziegler, A. & Legros, C., Sept 2025, In: Annals of Neurology. 98, 3, p. 573-589 17 p.

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

      Open Access
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      24 Downloads (Pure)

    • PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

      Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub, J.-M., Schaeffer-Reiss, C., Marcelis, C., Koolen, D. A., Pfundt, R., de Boer, E., Vissers, L. E., Gardeitchik, T., Aarts, L. A., Rinne, T., Terhal, P. A. & Verbeek, N. E. & 75 others, Zuurbier, L. C., Plomp, A. S., Wessels, M. W., de Man, S. A., Bouman, A., Bird, L. M., Saadeh-Haddad, R., Guillen Sacoto, M. J., Person, R., Gooch, C., Hurst, A. C., Thompson, M. L., Hiatt, S. M., Littlejohn, R. O., Roeder, E. R., Mori, M., Hickey, S., Hunter, J. M., Lee, K., Osman, K., Halloun, R., Bachmann-Gagescu, R., Rauch, A., Wieczorek, D., Platzer, K., Luppe, J., Duplomb-Jego, L., El It, F., Duffourd, Y., Tran Mau-Them, F., Huber, C., Gordon, C. T., Taylan, F., Mäkitie, R. E., Costantini, A., Valta, H., Robertson, S., Poke, G., Francoise, M., Ciolfi, A., Tartaglia, M., Ekhilevitch, N., Zaid, R., Levy, M. A., Kerkhof, J., McConkey, H., Delanne, J., Chevarin, M., Vautrot, V., Bourgeois, V., Nguyen, S., Marle, N., Callier, P., Safraou, H., Morgan, A., Amor, D. J., Hildebrand, M., Coman, D., Aubert Mucca, M., Thevenon, J., Laffargue, F., Bilan, F., Pebrel-Richard, C., Yoon, G., Axford, M. M., Pérez-Jurado, L. A., Sevilla-Porras, M., Black, D., Philippe, C., Sadikovic, B., Thauvin-Robinet, C., Olivier-Faivre, L., Ori, M., Thomas, Q. & Vitobello, A., 17 Nov 2025, In: Journal of Clinical Investigation. 135, 22, 18 p., e182100.

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

      Open Access
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      2 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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      24 Downloads (Pure)

    • Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

      EuroEPINOMICS-RES Dravet working group, 6 Jun 2024, In: American Journal of Human Genetics. 111, 6, p. 1184-1205 22 p.

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

      Open Access
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    View all 105 research outputs
    • 15 Oral presentation
    • 4 Invited talk
    • 3 Participation in workshop, seminar, course
    • 2 Participation in conference
    View all 24 activities