19982020

Research output per year

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Fingerprint Dive into the research topics where Lucia Castiglia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

  • Open Access
  • De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

    Jansen, S., van der Werf, I. M., Innes, A. M., Afenjar, A., Agrawal, P. B., Anderson, I. J., Atwal, P. S., van Binsbergen, E., van den Boogaard, M. J., Castiglia, L., Coban-Akdemir, Z. H., van Dijck, A., Doummar, D., van Eerde, A. M., van Essen, A. J., van Gassen, K. L., Guillen Sacoto, M. J., van Haelst, M. M., Iossifov, I., Jackson, J. L. & 30 others, Judd, E., Kaiwar, C., Keren, B., Klee, E. W., Klein Wassink-Ruiter, J. S., Meuwissen, M. E., Monaghan, K. G., de Munnik, S. A., Nava, C., Ockeloen, C. W., Pettinato, R., Racher, H., Rinne, T., Romano, C., Sanders, V. R., Schnur, R. E., Smeets, E. J., Stegmann, A. P. A., Stray-Pedersen, A., Sweetser, D. A., Terhal, P. A., Tveten, K., VanNoy, G. E., de Vries, P. F., Waxler, J. L., Willing, M., Pfundt, R., Veltman, J. A., Kooy, R. F. & Vissers, L. E. L. M., Jan 24 2019, In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  • Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

    Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., Jangam, S., Liu, C., Ni, H., Willemsen, M. H., van Bon, B. W., Rinne, T., Stevens, S. J. C., Kleefstra, T., Brunner, H. G., Yntema, H. G. & 30 others, Long, M., Zhao, W., Hu, Z., Colson, C., Richard, N., Schwartz, C. E., Romano, C., Castiglia, L., Bottitta, M., Dhar, S. U., Erwin, D. J., Emrick, L., Keren, B., Afenjar, A., Zhu, B., Bai, B., Stankiewicz, P., Herman, K., Nickerson, D. A., Bamshad, M. J., Mercimek-Andrews, S., Juusola, J., Wilfert, A. B., Abou Jamra, R., Büttner, B., Mefford, H. C., Muir, A. M., Scheffer, I. E., Regan, B. M. & Sartori, S., Dec 1 2019, In : Nature Communications. 10, 1, 4679.

    Research output: Contribution to journalArticle

    Open Access