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Nienke Volker-Touw

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    20152024

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    • 11 Article
    • 1 Comment/Letter to the editor

    • Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

      Rots, D., Bouman, A., Yamada, A., Levy, M., Dingemans, A. J. M., de Vries, B. B. A., Ruiterkamp-Versteeg, M., de Leeuw, N., Ockeloen, C. W., Pfundt, R., de Boer, E., Kummeling, J., van Bon, B., van Bokhoven, H., Kasri, N. N., Venselaar, H., Alders, M., Kerkhof, J., McConkey, H. & Kuechler, A. & 72 others, Elffers, B., van Beeck Calkoen, R., Hofman, S., Smith, A., Valenzuela, M. I., Srivastava, S., Frazier, Z., Maystadt, I., Piscopo, C., Merla, G., Balasubramanian, M., Santen, G. W. E., Metcalfe, K., Park, S. M., Pasquier, L., Banka, S., Donnai, D., Weisberg, D., Strobl-Wildemann, G., Wagemans, A., Vreeburg, M., Baralle, D., Foulds, N., Scurr, I., Brunetti-Pierri, N., van Hagen, J. M., Bijlsma, E. K., Hakonen, A. H., Courage, C., Genevieve, D., Pinson, L., Forzano, F., Deshpande, C., Kluskens, M. L., Welling, L., Plomp, A. S., Vanhoutte, E. K., Kalsner, L., Hol, J. A., Putoux, A., Lazier, J., Vasudevan, P., Ames, E., O'Shea, J., Lederer, D., Fleischer, J., O'Connor, M., Pauly, M., Vasileiou, G., Reis, A., Kiraly-Borri, C., Bouman, A., Barnett, C., Nezarati, M., Borch, L., Beunders, G., Özcan, K., Miot, S., Volker-Touw, C. M. L., van Gassen, K. L. I., Cappuccio, G., Janssens, K., Mor, N., Shomer, I., Dominissini, D., Tedder, M. L., Muir, A. M., Sadikovic, B., Brunner, H. G., Vissers, L. E. L. M., Shinkai, Y. & Kleefstra, T., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1605-1625 21 p.

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

      Open Access
      File

    • Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

      Harris, H. K., Nakayama, T., Lai, J., Zhao, B., Argyrou, N., Gubbels, C. S., Soucy, A., Genetti, C. A., Suslovitch, V., Rodan, L. H., Tiller, G. E., Lesca, G., Gripp, K. W., Asadollahi, R., Hamosh, A., Applegate, C. D., Turnpenny, P. D., Simon, M. E. H., Volker-Touw, C. M. L. & Gassen, K. L. I. V. & 61 others, Binsbergen, E. V., Pfundt, R., Gardeitchik, T., Vries, B. B. A. D., Immken, L. L., Buchanan, C., Willing, M., Toler, T. L., Fassi, E., Baker, L., Vansenne, F., Wang, X., Ambrus, J. L., Fannemel, M., Posey, J. E., Agolini, E., Novelli, A., Rauch, A., Boonsawat, P., Fagerberg, C. R., Larsen, M. J., Kibaek, M., Labalme, A., Poisson, A., Payne, K. K., Walsh, L. E., Aldinger, K. A., Balciuniene, J., Skraban, C., Gray, C., Murrell, J., Bupp, C. P., Pascolini, G., Grammatico, P., Broly, M., Küry, S., Nizon, M., Rasool, I. G., Zahoor, M. Y., Kraus, C., Reis, A., Iqbal, M., Uguen, K., Audebert-Bellanger, S., Ferec, C., Redon, S., Baker, J., Wu, Y., Zampino, G., Syrbe, S., Brosse, I., Jamra, R. A., Dobyns, W. B., Cohen, L. L., Blomhoff, A., Mignot, C., Keren, B., Courtin, T., Agrawal, P. B., Beggs, A. H. & Yu, T. W., Jun 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 6, p. 1028-1040 13 p.

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

      Open Access
      File
      2 Downloads (Pure)

    • Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant

      Duvekot, J. C., Baas, A. F., Volker-Touw, C. M. L., Bikker, H., Schroer, C. & Breur, J. M. P. J., Nov 2021, In: Canadian Journal of Cardiology. 37, 11, p. 1864-1866 3 p.

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

      Open Access
      File
      14 Downloads (Pure)

    • Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review

      Durkin, A., Albaba, S., Fry, A. E., Morton, J. E., Douglas, A., Beleza, A., Williams, D., Volker-Touw, C. M. L., Lynch, S. A., Canham, N., Clowes, V., Straub, V., Lachlan, K., Gibbon, F., El Gamal, M., Varghese, V., Parker, M. J., Newbury-Ecob, R., Turnpenny, P. D. & Gardham, A. & 2 others, Ghali, N. & Balasubramanian, M., 1 Jul 2020, In: American Journal of Medical Genetics. Part A. 182, 7, p. 1637-1654 18 p.

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

      Open Access
      File
      10 Citations (Scopus)
      2 Downloads (Pure)

    • Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients

      Roessler, H. I., Volker-Touw, C. M. L., Terhal, P. A., van Haaften, G. & van Haelst, M. M., Jul 2018, In: Clinical dysmorphology. 27, 3, p. 78-83 6 p.

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

      Open Access
      File
    View all 12 research outputs