Journal article

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

Vandana Shashi, Loren DM 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 TRM Stumpel Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2016

University of Melbourne Researchers


Awarded by Undiagnosed Diseases Network

Awarded by Deutsche Forschungsgemeinschaft

Funding Acknowledgements

We are grateful to the inidividuals and their families who contributed to this study and allowed us to publish their information and pictures. We thank I. Jantke for skillful technical assistance. This work was supported by the Undiagnosed Diseases Network (1U01HG007672-01 to V.S.) and the Deutsche Forschungsgemeinschaft (KO 4576/1-1 to F.K.). The authors disclose the following: the Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from molecular testing offered at the Baylor Genetics Laboratories (M.W.); D.B.G. has received consultancy fees and has equity ownership in Pairnomix LLC; H.M.M. and M.C. are employees of GeneDx; B.B. has received honoraria, consulting fees, or funding for clinical trials from Sanofi- Genzyme, Shire, Biomarin, Ultragenyx, Alexion, Armagen, and ReGenX Bio; and E.A.A. from the Undiagnosed Diseases Network is a co-founder of Personalis Inc.