NeurosciencebioRxivPreprint
Imbalance between RNA-binding proteins and the WAVE regulatory complex underlies the toxic gain-of-function effects of the CYFIP2 Arg87Cys variant in neurodevelopmental disorders
DOI 10.64898/2026.10.27.762134
Author
Korea Institute of Science & Technology InformationORCID 0000-0002-4025-7164Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
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Ruiying Ma, Muwon Kang, Gyu Hyun Kim…·Kihoon Han
This study uses longitudinal multi-omic analyses of a mouse model to show seizure evolution in West syndrome involves synaptic remodeling, gliosis, and proteomic/lipidomic changes over time.
Xuefang Zhao, Ryan L. Collins, Wan-Ping Lee…·Michael E. Talkowski
The paper compares structural variant detection using short-read and long-read sequencing in three trios, showing lrWGS finds more SVs but srWGS has high concordance in non-repetitive regions.