Associated Papers
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO.
Hiraide T et al.
Brain & Development, 2025
Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.
Xu C et al.
Genome Research, 2024
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
Autoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants.
Bircher JE et al.
The Journal of Biological Chemistry, 2022
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 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
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC et al.
Human Mutation, 2019
Trio Haploinsufficiency Causes Neurodevelopmental Disease-Associated Deficits.
Katrancha SM et al.
Cell Reports, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.
Katrancha SM et al.
Human Molecular Genetics, 2017
An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.
Sadybekov A et al.
Nature Communications, 2017
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J et al.
The New England Journal of Medicine, 2012