Associated Papers
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.
Berry JG et al.
Ebiomedicine, 2025
41202470 (PubMed )
Supplement: mmc2.xlsx › Table_S1
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
39941308 (PubMed )
Supplement: diagnostics-15-00376-s001.zip › diagnostics-3372801-supplementary.xlsx › Hoja1
[Clinical characteristics and genetic analysis of mental retardation disorder with TRIO gene variant].
Tian XJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G et al.
American Journal of Medical Genetics. Part A, 2023
Modeling human mutations to understand TRIO GEF function during development.
Fingleton E et al.
Trends in Neurosciences, 2023
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Bonnet M et al.
Molecular Psychiatry, 2023
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Singh T et al.
Nature, 2022
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.
Kloth K et al.
Neurogenetics, 2021
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
Schultz-Rogers L et al.
Bmc Medical Genetics, 2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Barbosa S et al.
American Journal of Human Genetics, 2020
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