ArticleNature neuroscience2020
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.
Article in Nature neuroscience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 2 of them syntheses that pooled it.
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Who cites it
79 citing papers in PubMed, 2 syntheses or guidelines pooled it, 138 citations in OpenAlex.
- A Systematic Review of the Human Accelerated Regions in Schizophrenia and Related Disorders: Where the Evolutionary and Neurodevelopmental Hypotheses Converge.International journal of molecular sciences · 2023Pooled it
- Pooled it
- Allele-specific expression in the brain links genetic risk and cortical thinning in psychiatric disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
- Artificial intelligence in the assessment of epilepsy-related genetic mutations: Learned from GABAEpilepsia open · 2026Review
- Joint analysis ofNAR genomics and bioinformatics · 2025Article
- High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene,bioRxiv : the preprint server for biology · 2025Article
- Whole-exome sequencing analysis identifies risk genes for schizophrenia.Nature communications · 2025Article
- Mitochondrial Oxidative Phosphorylation System Dysfunction in Schizophrenia.International journal of molecular sciences · 2025Review
- Addressing overfitting bias due to sample overlap in polygenic risk scoring.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- SC-VAR: a computational tool for interpreting polygenic disease risks using single-cell epigenomic data.Briefings in bioinformatics · 2025Article
- Endoplasmic reticulum protein retention and disturbed proteostasis is a common pathology for a subset of autism: evidence from mutations in GABAFrontiers in molecular neuroscience · 2025Review
- Human stem cell-based models to study synaptic dysfunction and cognition in schizophrenia: A narrative review.Schizophrenia research · 2024Review
- Direct targets of MEF2C are enriched for genes associated with schizophrenia and cognitive function and are involved in neuron development and mitochondrial function.PLoS genetics · 2024Article
- Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.American journal of human genetics · 2024Article
- Bayesian Rare Variant Analysis Identifies Novel Schizophrenia Putative Risk Genes.Journal of personalized medicine · 2024Article
- Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.American journal of human genetics · 2024Article
- Rare variants in pharmacogenes influence clozapine metabolism in individuals with schizophrenia.European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology · 2024Article
- SATB2 organizes the 3D genome architecture of cognition in cortical neurons.Molecular cell · 2024Article
- The Association of Hippocampal Long-Term Potentiation-Induced Gene Expression with Genetic Risk for Psychosis.International journal of molecular sciences · 2024Article
- Transcriptomics : Approaches to Quantifying Gene Expression and Their Application to Studying the Human Brain.Current topics in behavioral neurosciences · 2024Review
19 more citing papers are in PubMed but not listed here.
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Authors and funding
26 authors at 4 institutions in 4 countries.
Funding
Abstract
Schizophrenia is a highly polygenic disorder with important contributions from both common and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a new sample of 613 schizophrenia trios and combined this with published data to give a total of 3,444 trios. In this new data, loss-of-function (LoF) DNVs were significantly enriched among 3,471 LoF-intolerant genes, which supports previous findings. In the full dataset, genes associated with neurodevelopmental disorders (n = 159) were significantly enriched for LoF DNVs. Within these neurodevelopmental disorder genes, SLC6A1, which encodes a γ-aminobutyric acid transporter, was associated with missense-damaging DNVs. In 1,122 trios for which genome-wide common variant data were available, schizophrenia and bipolar disorder polygenic risk were significantly overtransmitted to probands. Probands carrying LoF or deletion DNVs in LoF-intolerant or neurodevelopmental disorder genes had significantly less overtransmission of schizophrenia polygenic risk than did non-carriers, which provides a second robust line of evidence that these DNVs increase liability to schizophrenia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.