De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel*, Claudia Schob, Sebastien Kuery, Margot R. F. Reinders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle Colin, Alexander P. A. Stegmann, Erica H. Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogne, Anya Revah-Politi, Tim M. Strom, Jill A. RosenfeldYaping Yang, Jennifer E. Posey, LaDonna Immken, Nelly Oundjian, Katherine L. Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda H. Schieving, Ana Claasen, Matthew Huentelman, Vinodh Narayanan, Keri Ramsey, Han G. Brunner, Orly Elpeleg, Sandra Mercier, Stephane Bezieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R. Lupski, Hans-Juergen Kreienkamp*, DDD Study, C4RCD Res Grp

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)716-724
Number of pages9
JournalAmerican Journal of Human Genetics
Volume101
Issue number5
DOIs
Publication statusPublished - 2 Nov 2017

Keywords

  • INTELLECTUAL DISABILITY
  • STRESS GRANULES
  • RNA GRANULES
  • PROTEIN
  • HELICASE
  • DISEASE
  • GENE
  • DISRUPTION
  • FAMILY
  • MODULE

Cite this