CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. CohenRuky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, Andre Reis, Martin G. Bialer, Christine Moore, Sandra Jansen, Han G. Brunner, DDD Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number4619
Number of pages12
JournalNature Communications
Volume9
Issue number1
DOIs
Publication statusPublished - 5 Nov 2018

Keywords

  • DE-NOVO MUTATIONS
  • CHROMATIN REMODELING COMPLEX
  • INTELLECTUAL DISABILITY
  • DEACETYLASE COMPLEX
  • EXOME
  • DISORDER
  • FAMILY
  • GENE
  • NURD
  • DIAGNOSIS

Cite this

Blok, L. S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., ... DDD Study (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1), [4619]. https://doi.org/10.1038/s41467-018-06014-6