TL;DR
An adult synaptic ASD-associated layer and a mid-prenatal developmental-regulatory layer within predefined ASD risk-gene sets are defined and size-matched gene-level resampling indicated that the signal was not explained by gene-set size alone.
Collectively, human cortical transcriptomic studies in ASD support a model of partial, context‐dependent convergence on a limited set of biological programmes, rather than a single stable molecular lesion.
NRXN1 haploinsufficiency is associated with coordinated downregulation of RNA-processing genes in cortical organoids, and the convergence on mRNA nuclear export and RNA-processing genes should be interpreted cautiously and verified by direct experimental perturbation.
The findings establish MSCN as a scalable framework for decomposing ASD mRNA co-expression architecture, provide a hypothesis-generating resource linking coding and noncoding transcriptomic alterations, and help prioritize these relationships for future validation.
This framework integrates predicted perturbation effects with genomic evidence to support autism candidate prioritization and identifies a telencephalic neuron-specific model best preserving autism-relevant perturbation structure.
FMRI data from 162 ASD and 175 TD adolescents are analyzed to demonstrate statistical associations among altered spatial-functional properties, clinical severity, and transcriptomic profiles related to synaptic signaling, mitochondrial processes, and glial-related functions in ASD, providing a complementary spatial perspective on large-scale functional organization.
The shared genetic architecture between SCZ and subcortical brain susceptibility phenotypes is dissected by integrating large-scale genome-wide association study data with quantitative susceptibility mapping (QSM) phenotypes across 16 subcortical regions, highlighting pathways that may offer novel therapeutic strategies for SCZ and related brain susceptibility-associated conditions.
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