ArticleNature neuroscience2018
Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis.
Article in Nature neuroscience, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 224 papers, 4 of them syntheses that pooled it.
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Who cites it
224 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Multi-ancestry eQTL meta-analysis of human brain identifies candidate causal variants for brain-related traits.Nature genetics · 2022Pooled it
- Independent replications and integrative analyses confirm TRANK1 as a susceptibility gene for bipolar disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2021Pooled it
- Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.Nature genetics · 2021Pooled it
- Differential and spatial expression meta-analysis of genes identified in genome-wide association studies of depression.Translational psychiatry · 2021Pooled it
- Nimodipine improves cortical efficiency during working memory in healthy subjects.Translational psychiatry · 2020Trial
- BDNF-DT and BDNF-AS-DT: novel genes in the BDNF locus.Molecular psychiatry · 2026Article
- Upregulation of circSUCO22-20 in schizophrenia: clinical correlation with systemic inflammation and in vitro pro-apoptotic mechanisms.European archives of psychiatry and clinical neuroscience · 2026Article
- Article
- Coordinated dysregulation of modular gene activity in human neuropathologies.bioRxiv : the preprint server for biology · 2026Article
- The therapeutic potential of COMT inhibition: cognition and beyond.Molecular psychiatry · 2026Review
- Article
- Biophysical modeling of anatomically realistic prenatal cortical folding development.Nature communications · 2026Article
- Analysis of gene co-expression connectivity dynamics implicates aberrant neuron-oligodendroglia interactions in schizophrenia.Nature communications · 2026Article
- Co-expression-based models improve eQTL predictions for transcriptome-wide association studies and highlight new schizophrenia-associated genes.Nature genetics · 2026Article
- StringTie3 improves total RNA-seq assembly by resolving nascent and mature transcripts.Nature methods · 2026Article
- Autism-like phenotypes and increased NMDAR2D expression in mice with KDM5B histone lysine demethylase deficiency.Science advances · 2026Article
- Upregulation of DNA repair-related genes in the prefrontal cortex of patients with schizophrenia with low genetic risk.Schizophrenia (Heidelberg, Germany) · 2026Article
- NeMO Analytics: a compendium of transcriptomic data for the exploration of neocortical development.Nature neuroscience · 2026Article
- Mendelian randomization facilitates identification of schizophrenia risk enhancer RNAs.Molecular psychiatry · 2026Article
- Functional variants at 1p36.23 confer risk of schizophrenia through modulating RERE.Nature communications · 2026Article
164 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
21 authors.
Funding
Abstract
Genome-wide association studies have identified 108 schizophrenia risk loci, but biological mechanisms for individual loci are largely unknown. Using developmental, genetic and illness-based RNA sequencing expression analysis in human brain, we characterized the human brain transcriptome around these loci and found enrichment for developmentally regulated genes with novel examples of shifting isoform usage across pre- and postnatal life. We found widespread expression quantitative trait loci (eQTLs), including many with transcript specificity and previously unannotated sequence that were independently replicated. We leveraged this general eQTL database to show that 48.1% of risk variants for schizophrenia associate with nearby expression. We lastly found 237 genes significantly differentially expressed between patients and controls, which replicated in an independent dataset, implicated synaptic processes, and were strongly regulated in early development. These findings together offer genetics- and diagnosis-related targets for better modeling of schizophrenia risk. This resource is publicly available at http://eqtl.brainseq.org/phase1 .
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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.