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
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
Regulatory Functions of TDP-43 and FMRP in Non-Neuronal Diseases: Are Co-Targeted mRNAs the Keys?
Ahsan A et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 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
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 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
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
Single-cell multi-gene identification of somatic mutations and gene rearrangements in cancer.
Grimes SM et al.
Nar Cancer, 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
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability.
Fell CW et al.
Trends in Molecular Medicine, 2021
Integrative omics analyses broaden treatment targets in human cancer.
Sengupta S et al.
Genome Medicine, 2018
An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction.
Tian C et al.
Frontiers in Molecular Neuroscience, 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
3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets.
Gao J et al.
Genome Medicine, 2017