Associated Papers
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 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
Selectivity Determinants of RHO GTPase Binding to IQGAPs.
Mosaddeghzadeh N et al.
International Journal of Molecular Sciences, 2021
RHO GTPases: from new partners to complex immune syndromes.
El Masri R et al.
Nature Reviews. Immunology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 2020
A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.
Szczawinska-Poplonyk A et al.
Frontiers in Immunology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S et al.
American Journal of Human Genetics, 2018
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017