De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Konrad Platzer*, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria T. Bonati, Campbell Brasington, Megan T. Cho, Laurie A. Demmer, Tzipora Falik-Zaccai, Candace N. Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Mahida, Hanna Mandel, Thorsten Marquardt, Kirsty McWalter, Bianca Panis, Alexander PeplerHailey Pinz, Luiza Ramos, Deepali N. Shinde, Constance Smith-Hicks, Alexander P. A. Stegmann, Petra Stoebe, Constance T. R. M. Stumpel, Carolyn Wilson, Johannes R. Lemke, Nataliya Di Donato, Kenneth G. Miller, Rami Jamra

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)203-212
Number of pages10
JournalAmerican Journal of Human Genetics
Volume104
Issue number2
DOIs
Publication statusPublished - 7 Feb 2019

Keywords

  • AXONAL ANTEROGRADE TRANSPORT
  • HEAVY-CHAIN
  • UNC-16 JIP3
  • MUTATIONS
  • TRKB
  • POLYMICROGYRIA
  • PROTEINS
  • KINESIN
  • EXOME

Cite this

Platzer, K., Sticht, H., Edwards, S. L., Allen, W., Angione, K. M., Bonati, M. T., Brasington, C., Cho, M. T., Demmer, L. A., Falik-Zaccai, T., Gamble, C. N., Hellenbroich, Y., Iascone, M., Kok, F., Mahida, S., Mandel, H., Marquardt, T., McWalter, K., Panis, B., ... Jamra, R. (2019). De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. American Journal of Human Genetics, 104(2), 203-212. https://doi.org/10.1016/j.ajhg.2018.12.008