De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi, Loren D. M. Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Nicholas Stong, Scott E. Hickey, Christine M. Shuss, Michael S. Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine El-Dairi, Megan Butler, Peter G. Kranz, Constance T. R. M. StumpelSylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slave Petrovski, Outi Kuismin, Satu Korpi-Heikkila, Olli Pietilainen, Palotie Aarno, Mitja I. Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, Fanny Kortuem

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)991-999
JournalAmerican Journal of Human Genetics
Volume99
Issue number4
DOIs
Publication statusPublished - 6 Oct 2016

Cite this

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., ... Kortuem, F. (2016). De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. American Journal of Human Genetics, 99(4), 991-999. https://doi.org/10.1016/j.ajhg.2016.08.017