De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia Maas, Hester Y. Kroes, Augusta M. A. Lachmeijer, Koen L. van Gassen, Helen Firth, Susan Tomkins, Simon Bodek, The D. D. D. Study, Katrin Ounap, Monica H. Wojcik, Christopher Cunniff, Katherine Bergstrom, Zoe Powis, Sha Tang, Deepali N. Shinde, Catherine Au, Alejandro D. IglesiasKosuke Izumi, Jacqueline Leonard, Ahmad Abou Tayoun, Samuel W. Baker, Marco Tartaglia, Marcello Niceta, Maria Lisa Dentici, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christian Gilissen, Laurens Wiel, Rolph Pfundt, Pelagia Deriziotis, Han G. Brunner, Simon E. Fisher

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)403-412
Number of pages10
JournalAmerican Journal of Human Genetics
Volume105
Issue number2
DOIs
Publication statusPublished - Aug 2019

Keywords

  • TRANSCRIPTIONAL REGULATION
  • PROTEINS
  • BINDING
  • BRN-2
  • HOMODIMERIZATION
  • EXPRESSION
  • SPEECH
  • GENES

Cite this

Blok, L. S., Kleefstra, T., Venselaar, H., Maas, S., Kroes, H. Y., Lachmeijer, A. M. A., van Gassen, K. L., Firth, H., Tomkins, S., Bodek, S., Study, T. D. D. D., Ounap, K., Wojcik, M. H., Cunniff, C., Bergstrom, K., Powis, Z., Tang, S., Shinde, D. N., Au, C., ... Fisher, S. E. (2019). De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. American Journal of Human Genetics, 105(2), 403-412. https://doi.org/10.1016/j.ajhg.2019.06.007