Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.
Upadia J et al.
American Journal of Medical Genetics. Part A, 2025
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
38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants
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
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
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
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 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
Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.
Zamboni V et al.
International Journal of Molecular Sciences, 2018
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Reijnders MRF et al.
American Journal of Human Genetics, 2017
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