Nienke Verbeek

dr.

    20062025

    Research activity per year

    Collaborations and top research areas from the last five years

    Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
    • 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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-review

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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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-review

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