De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Yoko Ito, Keren J. Carss, Sofia T. Duarte, Taila Hartley, Boris Keren, Manju A. Kurian, Isabelle Marey, Perinne Charles, Carla Mendonca, Caroline Nava, Rolph Pfundt, Alba Sanchis-Juan, Hans van Bokhoven, Anthony van Essen, Conny van Ravenswaaij-Arts, Kym M. Boycott, Kristin D. Kernohan, Sarah Dyack, F. Lucy Raymond*, Yvonne HenskensNIHR BioResource, Care4Rare Canada Consortium

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)144-153
Number of pages10
JournalAmerican Journal of Human Genetics
Volume103
Issue number1
DOIs
Publication statusPublished - 5 Jul 2018

Keywords

  • PROTEIN
  • WAVE
  • PLASTICITY
  • DISORDERS
  • EXCHANGE
  • COMPLEX
  • GENES

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