Associated Papers
Interpreting the functional impact of genetic variants: The need for context qualifiers.
Martinelli S et al.
American Journal of Human Genetics, 2026
Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases.
Brightman D et al.
Clinical Genetics, 2025
CDC42 missense mutations and human diseases: from neurodevelopmental disorders to autoinflammation.
Yasumi T
Journal of Biochemistry, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
Assing K et al.
Journal of Clinical Immunology, 2023
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation.
van Wijck RTA et al.
Journal of Clinical Immunology, 2023
Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.
Nishitani-Isa M et al.
The Journal of Experimental Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
RHO GTPases: from new partners to complex immune syndromes.
El Masri R et al.
Nature Reviews. Immunology, 2021
Ending a diagnostic odyssey-The first case of Takenouchi-Kosaki syndrome in an African patient.
Flynn K et al.
Clinical Case Reports, 2021
Aplasia cutis congenita in a CDC42-related developmental phenotype.
Schnabel F et al.
American Journal of Medical Genetics. Part A, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.
Bucciol G et al.
Journal of Clinical Immunology, 2020
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Lam MT et al.
The Journal of Experimental Medicine, 2019
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S et al.
American Journal of Human Genetics, 2018