A high-resolution cellular and temporal framework of SZ susceptibility is established, implicating mature associative IT microcircuits, deep-layer thalamocortical-regulating networks, and early developmental specification windows as primary points of genetic convergence in SZ.
These findings provide a cell-type-resolved and ancestry-aware atlas of genetically regulated expression in the human prefrontal cortex and illustrate how single-nucleus transcriptomics can sharpen gene discovery and therapeutic target prioritization for complex brain disorders.
S. Venkatesh, Roman Kosoy, Zhen-Yi Wu et al.· Nature· 7 citations
These findings demonstrate that the ArxR264Q mutation induces early, cell-specific transcriptional dysregulation affecting pathways critical for cortical interneuron development, and provides mechanistic insight into how a schizophrenia-associated ARX variant may perturb early neurodevelopmental trajectories.
A. Yonehara, A. Coronado, A. Gibbons et al.· International Journal of Neu...· 0 citations
These findings connect MDD polygenic risk to motor-cortical inhibitory-neuron biology and experimentally tractable circuit mechanisms and provide scDepBrain as a resource for exploring MDD-associated cellular programs across the brain.
Y. Ma, H. Han, C. Chen et al.· medRxiv· 0 citations
This high-resolution atlas of genetic regulation of gene expression in the human prefrontal cortex provides insight into the cell type-specific regulatory architecture of the human brain, and offers novel mechanistic targets for understanding the genetic basis of neuropsychiatric and neurodegenerative diseases.
B. Zeng, Hui Yang, Prashant N. M. et al.· Nature Genetics· 2 citations
A population-scale single-cell transcriptomic atlas of the human dorsolateral prefrontal cortex provides a perspective of the transcriptomic landscape in neurodegenerative and neuropsychiatric disorders, and offers potential targets for therapeutic intervention.
Donghoon Lee, Mikaela Koutrouli, Nicolas Y. Masse et al.· Nature· 6 citations
This study profiled gene expression and chromatin accessibility in ∼140,000 individual nuclei from 40 post-mortem adult human brain samples from 11 donors spanning four brain regions to prioritise specific neural cell populations relevant for complex traits.
A. Babtie, Georgina E. T. Blake, Youth-GEMs Consortium et al.· bioRxiv· 0 citations
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