ArticleGenome research2020
High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiation.
Article in Genome research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.
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Who cites it
60 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
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- Developmentally dynamic, non-convergent transcriptomic profiles in CNV models for schizophrenia risk.Molecular psychiatry · 2026Article
- Interpretation, extrapolation and perturbation of single cells.Nature reviews. Genetics · 2026Review
- Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo.Nature neuroscience · 2026Article
- Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models.Cell genomics · 2026Review
- Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traits.American journal of human genetics · 2026Article
- Uncovering causal relationships in single-cell omic studies with causarray.Briefings in bioinformatics · 2026Article
- Finding Significant Hits in Networks: a network-based tool for analyzing gene-level P-values to identify significant genes missed by standard methods.Briefings in bioinformatics · 2026Article
- Probing neuropsychiatric disorders through in vivo CRISPR screening.Current opinion in genetics & development · 2026Review
- Functional implications of polygenic risk for schizophrenia in human neurons.Nature communications · 2026Article
- Characterization of Lysine Methylation During Neuronal Differentiation of LUHMES cells.bioRxiv : the preprint server for biology · 2026Article
- Human RBM3 protein is prone to form neuronal aggregates opposed by the proteasome.Biology open · 2026Article
- Genetic Convergence Analysis of CRISPR Perturbations Deciphers Gene Functional Similarity.bioRxiv : the preprint server for biology · 2025Article
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- CRISPRi-based screen of autism spectrum disorder risk genes in microglia uncovers roles of ADNP in microglia endocytosis and synaptic pruning.Molecular psychiatry · 2025Article
- Functional Neurogenomics to Dissect Disease Mechanisms Across Models.Annual review of genomics and human genetics · 2025Review
- Dynamic convergence of neurodevelopmental disorder risk genes across neurodevelopment.bioRxiv : the preprint server for biology · 2025Article
- Ciliary biology intersects autism and congenital heart disease.Development (Cambridge, England) · 2025Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
The overwhelming success of exome- and genome-wide association studies in discovering thousands of disease-associated genes necessitates developing novel high-throughput functional genomics approaches to elucidate the molecular mechanisms of these genes. Here, we have coupled multiplexed repression of neurodevelopmental disease-associated genes to single-cell transcriptional profiling in differentiating human neurons to rapidly assay the functions of multiple genes in a disease-relevant context, assess potentially convergent mechanisms, and prioritize genes for specific functional assays. For a set of 13 autism spectrum disorder (ASD)-associated genes, we show that this approach generated important mechanistic insights, revealing two functionally convergent modules of ASD genes: one that delays neuron differentiation and one that accelerates it. Five genes that delay neuron differentiation (
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