De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung-Hyun Kim, Deepali N. Shinde, Margot R. F. Reijnders, Natalie S. Hauser, Rebecca L. Belmonte, Gregory R. Wilson, Danielle G. M. Bosch, Paula A. Bubulya, Vandana Shashi, Slave Petrovski, Joshua K. Stone, Eun Young Park, Joris Veltman, Margje Sinnema, Constance Stumpel, Jos M. Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B. A. de VriesTamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine K. Bachman, Andrea H. Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortuem, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria Bramswig, Franco A. Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlene Rio, Serge Romana, Sha Tang, Dima El-Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P. A. Stegmann, Servi J. C. Stevens, Dong-Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M. Mancini, Richard M. Myers, Laurie B. Owen, Ssang-Taek Lim, David L. Stachura, Lisenka E. L. M. Vissers, Eun-Young Erin Ahn

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)711-719
JournalAmerican Journal of Human Genetics
Volume99
Issue number3
DOIs
Publication statusPublished - 1 Sep 2016

Cite this

Kim, J-H., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., Bosch, D. G. M., Bubulya, P. A., Shashi, V., Petrovski, S., Stone, J. K., Park, E. Y., Veltman, J., Sinnema, M., Stumpel, C., Draaisma, J. M., Nicolai, J., Yntema, H. G., Lindstrom, K., ... Ahn, E-Y. E. (2016). De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. American Journal of Human Genetics, 99(3), 711-719. https://doi.org/10.1016/j.ajhg.2016.06.029