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

Sandra Jansen, Ilse M. van der Werf, A. Micheil Innes, Alexandra Afenjar, Pankaj B. Agrawal, Ilse J. Anderson, Paldeep S. Atwal, Ellen van Binsbergen, Marie-Jose van den Boogaard, Lucia Castiglia, Zeynep H. Coban-Akdemir, Anke van Dijck, Diane Doummar, Albertien M. van Eerde, Anthonie J. van Essen, Koen L. van Gassen, Maria J. Guillen Sacoto, Mieke M. van Haelst, Ivan Iossifov, Jessica L. JacksonElizabeth Judd, Charu Kaiwar, Boris Keren, Eric W. Klee, Jolien S. Klein Wassink-Ruiter, Marije E. Meuwissen, Kristin G. Monaghan, Sonja A. de Munnik, Caroline Nava, Charlotte W. Ockeloen, Rosa Pettinato, Hilary Racher, Tuula Rinne, Corrado Romano, Victoria R. Sanders, Rhonda E. Schnur, Eric J. Smeets, Alexander P. A. Stegmann, Asbjorg Stray-Pedersen, David A. Sweetser, Paulien A. Terhal, Kristian Tveten, Grace E. VanNoy, Petra F. de Vries, Jessica L. Waxler, Marcia Willing, Rolph Pfundt, Joris A. Veltman, R. Frank Kooy, Lisenka E. L. M. Vissers, Bert B. A. de Vries*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)738-746
Number of pages9
JournalEuropean Journal of Human Genetics
Volume27
Issue number5
DOIs
Publication statusPublished - May 2019

Keywords

  • UBIQUITIN LIGASES
  • MUTATIONS
  • GENE
  • SPECTRUM
  • E3
  • PHENOTYPE
  • IDENTIFICATION
  • GENEMATCHER
  • CANCER
  • FAMILY

Cite this

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., Sacoto, M. J. G., van Haelst, M. M., Iossifov, I., ... de Vries, B. B. A. (2019). De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. European Journal of Human Genetics, 27(5), 738-746. https://doi.org/10.1038/s41431-018-0292-2