Associated Papers
Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo TRIO Variant in Dizygotic Twins.
Bouchahta H et al.
Molecular Syndromology, 2026
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C et al.
Bmc Genomics, 2023
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
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
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Singh T et al.
Nature, 2022
Dysfunction of Trio GEF1 involves in excitatory/inhibitory imbalance and autism-like behaviors through regulation of interneuron migration.
Sun X et al.
Molecular Psychiatry, 2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cook CB et al.
Cold Spring Harbor Molecular Case Studies, 2021
Autism Spectrum Disorder/Intellectual Disability-Associated Mutations in Trio Disrupt Neuroligin 1-Mediated Synaptogenesis.
Tian C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
Schultz-Rogers L et al.
Bmc Medical Genetics, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
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
An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.
Sadybekov A et al.
Nature Communications, 2017
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
Pengelly RJ et al.
Journal of Medical Genetics, 2016
A programmable method for massively parallel targeted sequencing.
Hopmans ES et al.
Nucleic Acids Research, 2014