Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew E. Prendergast, Jocelyn E. Chau, Hannah Louise Smith, John P. Shohfi, Jack Ocken, Daniel Durán, Charuta Gavankar Furey, Hao Thi Le, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, , Kristopher Thomas Kahle
The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.
bioRxiv · Mar 18, 2023 · PreprintGenomics