Children’s National Health System


Washington, DC, United States (USA)

Publications in cooperation with FAU scientists

Zweier, M., Begemann, A., Mcwalter, K., Cho, M.T., Abela, L., Banka, S.,... Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European journal of human genetics, 27(5), 747-759.
Saunier, C., Stove, S.I., Popp, B., Gerard, B., Blenski, M., Ahmew, N.,... Zweier, C. (2016). Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. Human Mutation, 37(8), 755-64.
Durmus, H., Ayhan, O., Cirak, S., Deymeer, F., Parman, Y., Franke, A.,... Serdaroglu-Oflazer, P. (2016). Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice. Neurology, 87(8), 799-805.

Last updated on 2017-20-04 at 08:41