Associated Papers
Molecular Insights Into the Binding Dynamics of Transcription Factor TBR1 to T-box DNA Sequences.
Hartman R et al.
Journal of Molecular Biology, 2026
Novel TBR1 c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis.
Ćuk M et al.
Genes, 2025
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
Sollis E et al.
Human Molecular Genetics, 2023
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
Heng JI et al.
Journal of Neurochemistry, 2022
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
Sapey-Triomphe LA et al.
Human Genomics, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Nambot S et al.
European Journal of Human Genetics : Ejhg, 2020
A TBR1-K228E Mutation Induces Tbr1 Upregulation, Altered Cortical Distribution of Interneurons, Increased Inhibitory Synaptic Transmission, and Autistic-Like Behavioral Deficits in Mice.
Yook C et al.
Frontiers in Molecular Neuroscience, 2019
Functional characterization of TBR1 variants in neurodevelopmental disorder.
den Hoed J et al.
Scientific Reports, 2018
The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.
McDermott JH et al.
European Journal of Medical Genetics, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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