Associated Papers
The role of Rho GTPases in facial morphogenesis.
Ibrahim I et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.
Upadia J et al.
American Journal of Medical Genetics. Part A, 2025
RAC1-Amplified and RAC1-A159V Hotspot-Mutated Head and Neck Cancer Sensitive to the Rac Inhibitor EHop-016 In Vivo: A Proof-of-Concept Study.
Chan HHY et al.
Cancers, 2025
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Molecular dynamics simulation of RAC1 protein and its de novo variants related to developmental disorders.
Rani N et al.
Journal of Biomolecular Structure & Dynamics, 2024
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Priolo M et al.
European Journal of Human Genetics : Ejhg, 2023
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Seyama R et al.
Scientific Reports, 2023
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S et al.
Brain : a Journal of Neurology, 2022
Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability.
Fell CW et al.
Trends in Molecular Medicine, 2021
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.
Chen S et al.
Nature Genetics, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Reijnders MRF et al.
American Journal of Human Genetics, 2017