Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

Lu, S., Hernan, R., Marcogliese, P. C., Huang, Y., Gertler, T. S., Akcaboy, M., Liu, S., Chung, H., Pan, X., Sun, X., Oguz, M. M., Oztoprak, U., de Baaij, J. H. F., Ivanisevic, J., McGinnis, E., Guillen Sacoto, M. J., Chung, W. K., & Bellen, H. J. (2022). Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. The American Journal of Human Genetics, 109(4), 571–586. https://doi.org/10.1016/j.ajhg.2022.01.020
Authors:
Shenzhao Lu
Rebecca Hernan
Paul C. Marcogliese
Yan Huang
Tracy S. Gertler
Meltem Akcaboy
Shiyong Liu
Hyung-lok Chung
Xueyang Pan
Xiaoqin Sun
Melahat Melek Oguz
Ulkühan Oztoprak
Jeroen H.F. de Baaij
Jelena Ivanisevic
Erin McGinnis
Maria J. Guillen Sacoto
Wendy K. Chung
Hugo J. Bellen
Affiliated Authors:
Rebecca Hernan
Wendy K. Chung
Author Keywords:
drosophila
sif
tiam1
developmental delay
intellectual disability
seizures
speech delay
still life
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2022.01.020
PMID:
Publication Date:
Data Source:
Scopus

Record Created: