ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2014
Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 183 papers, 1 of them a synthesis that pooled it.
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Who cites it
183 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Resting-State Brain Activity Changes and Their Genetic Correlates in Mild Traumatic Brain Injury.Human brain mapping · 2025Pooled it
- Intermittent Theta Burst Stimulation Improves Sleep in Autism Spectrum Disorder by Reorganizing Overlapping Brain Networks With Neurochemical and Transcriptomic Signatures: A Randomized Controlled Trial.CNS neuroscience & therapeutics · 2026Trial
- celltypeEnrich: a consensus-based scRNA-seq cluster annotation tool.bioRxiv : the preprint server for biology · 2026Article
- Personalized prediction of treatment response during the acute phase of schizophrenia based on the connectome-based predictive model.European archives of psychiatry and clinical neuroscience · 2026Article
- Whole-exome sequencing in individuals with obsessive-compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes.Nature neuroscience · 2026Article
- Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.Molecular psychiatry · 2026Article
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- R-loop landscapes in the developing human brain are linked to neural differentiation and cell type-specific transcription.Translational psychiatry · 2026Article
- Transcriptome analysis of the prefrontal cortex identifies inflammatory genes associated with cognitive impairment in a model of multiple sclerosis.Cell death discovery · 2026Article
- Spatial heterogeneity and subtypes of functional connectivity development in youth.Nature communications · 2026Article
- A large-scale multi-ancestry genome-wide association study of chronic prostatitis/chronic pelvic pain syndrome in men.Nature communications · 2026Article
- Transcriptional and neurotransmitter signatures associated with regional gray matter alterations in juvenile myoclonic epilepsy.Frontiers in molecular neuroscience · 2026Article
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.Cerebellum (London, England) · 2025Article
- Molecular and imaging biomarker responses to brain mutant HTT lowering in a mouse model of Huntington disease.Molecular therapy. Nucleic acids · 2025Article
- Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism.bioRxiv : the preprint server for biology · 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
- Brain overlapping system-level architecture influenced by external magnetic stimulation and internal gene expression in AD-spectrum patients.Molecular psychiatry · 2025Article
- Ectoparasites enhance survival by suppressing host exploration and limiting dispersal.Nature communications · 2025Article
- A multi-omic approach implicates novel protein dysregulation in post-traumatic stress disorder.Genome medicine · 2025Article
123 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors.
Funding
Abstract
Recent advances have substantially increased the number of genes that are statistically associated with complex genetic disorders of the CNS such as autism and schizophrenia. It is now clear that there will likely be hundreds of distinct loci contributing to these disorders, underscoring a remarkable genetic heterogeneity. It is unclear whether this genetic heterogeneity indicates an equal heterogeneity of cellular mechanisms for these diseases. The commonality of symptoms across patients suggests there could be a functional convergence downstream of these loci upon a limited number of cell types or circuits that mediate the affected behaviors. One possible mechanism for this convergence would be the selective expression of at least a subset of these genes in the cell types that comprise these circuits. Using profiling data from mice and humans, we have developed and validated an approach, cell type-specific expression analysis, for identifying candidate cell populations likely to be disrupted across sets of patients with distinct genetic lesions. Using human genetics data and postmortem gene expression data, our approach can correctly identify the cell types for disorders of known cellular etiology, including narcolepsy and retinopathies. Applying this approach to autism, a disease where the cellular mechanism is unclear, indicates there may be multiple cellular routes to this disorder. Our approach may be useful for identifying common cellular mechanisms arising from distinct genetic lesions.
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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.