Nienke Verbeek

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Nienke Verbeek

dr.

    20062025

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    • 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

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    • 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

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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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    • 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

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    • The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

      Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L. & Bosch, D. G. M. & 40 others, Vitobello, A., Thauvin-Robinet, C., Faivre, L., Nambot, S., Garde, A., Willems, M., Genevieve, D., Nicolas, G., Busa, T., Toutain, A., Gérard, M., Bizaoui, V., Isidor, B., Merla, G., Accadia, M., Schwartz, C. E., Ounap, K., Hoffer, M. J. V., Nezarati, M. M., van den Boogaard, M.-J. H., Tedder, M. L., Rogers, C., Brusco, A., Ferrero, G. B., Spodenkiewicz, M., Sidlow, R., Mussa, A., Trajkova, S., McCann, E., Mroczkowski, H. J., Jansen, S., Donker-Kaat, L., Duijkers, F. A. M., Stuurman, K. E., Mannens, M. M. A. M., Alders, M., Henneman, P., White, S. M., Sadikovic, B. & van Haelst, M. M., Jun 2024, In: Human Genetics. 143, 6, p. 761-773 13 p.

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

      Open Access
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    View all 104 research outputs
    • 15 Oral presentation
    • 4 Invited talk
    • 3 Participation in workshop, seminar, course
    • 2 Participation in conference
    View all 24 activities