ArticleMolecular psychiatry2020
Mutations in ASH1L confer susceptibility to Tourette syndrome.
Article in Molecular psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 3 of them syntheses that pooled it.
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Who cites it
36 citing papers in PubMed, 3 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders.Biological psychiatry · 2025Pooled it
- The genetics of trichotillomania and excoriation disorder: A systematic review.Comprehensive psychiatry · 2024Pooled it
- Role of Ash1l in Tourette syndrome and other neurodevelopmental disorders.Developmental neurobiology · 2021Pooled it
- Persistent tic disorders are associated with 17q12 duplications.Molecular psychiatry · 2026Article
- Clinical Profile and Plasma Vitamin B6 Levels in Children with Tourette Syndrome: A Case-control Study.Indian journal of psychological medicine · 2026Article
- Rare coding variation in OCD implicates shared genes with other psychiatric disorders.medRxiv : the preprint server for health sciences · 2025Article
- A Celsr3 Mutation Linked to Tourette Disorder Disrupts Cortical Dendritic Patterning and Striatal Cholinergic Interneuron Excitability.International journal of molecular sciences · 2025Article
- Rare coding mutations identify 36 large-effect risk genes in obsessive-compulsive disorder and chronic tic disorders.medRxiv : the preprint server for health sciences · 2025Article
- Metabolic abnormalities of the cortico‑striato‑thalamo‑cortical circuit of rats with tic disorder.Molecular medicine reports · 2025Article
- Interneuron Loss and Microglia Activation by Transcriptome Analyses in the Basal Ganglia of Tourette Disorder.Biological psychiatry · 2025Article
- Article
- Chromatin modifiers in neurodevelopment.Frontiers in molecular neuroscience · 2025Review
- Article
- Abnormal H3K4 enzyme catalytic activity and neuronal morphology caused by ASH1L mutations in individuals with Tourette syndrome.European child & adolescent psychiatry · 2024Article
- Developing a phenotype risk score for tic disorders in a large, clinical biobank.Translational psychiatry · 2024Article
- Human mutations in high-confidence Tourette disorder genes affect sensorimotor behavior, reward learning, and striatal dopamine in mice.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- The role of neuroactive steroids in tic disorders.Neuroscience and biobehavioral reviews · 2024Review
- Review
- Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023Article
- The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities.Frontiers in neuroscience · 2023Review
Corrections and comments
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Authors and funding
48 authors at 13 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder characterized by repetitive motor movements and vocal tics. The clinical manifestations of TS are complex and often overlap with other neuropsychiatric disorders. TS is highly heritable; however, the underlying genetic basis and molecular and neuronal mechanisms of TS remain largely unknown. We performed whole-exome sequencing of a hundred trios (probands and their parents) with detailed records of their clinical presentations and identified a risk gene, ASH1L, that was both de novo mutated and associated with TS based on a transmission disequilibrium test. As a replication, we performed follow-up targeted sequencing of ASH1L in additional 524 unrelated TS samples and replicated the association (P value = 0.001). The point mutations in ASH1L cause defects in its enzymatic activity. Therefore, we established a transgenic mouse line and performed an array of anatomical, behavioral, and functional assays to investigate ASH1L function. The Ash1l
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