Stephen T. Warren

This study uses cross-species scRNA-seq to show that the 3q29 deletion causes mitochondrial dysfunction in both human cortical organoids and mouse models, suggesting a conserved metabolic disruption in schizophrenia.

This study transplants FXS patient-derived neurons into mice to study their development and finds FMR1-dependent changes in synaptic activity and morphology.

The paper identifies OTUD7A loss-of-function mutations in schizophrenia-associated 15q13.3 deletions and shows they impair synapse development and function in human neurons.

This study investigates the molecular effects of the 3q29 deletion on the human neural transcriptome, identifying convergent and distributed impacts across gene clusters and pathways related to psychiatric disorders.

This study evaluates 32 individuals with 3q29 deletion syndrome to identify common medical and neurodevelopmental features and provides clinical care recommendations.

This study shows that the 3q29 deletion causes sex-specific metabolic changes in mice, which are not linked to behavioral issues, and that a high-fat diet can improve weight in females without worsening behavior.

The paper shows that restoring over 5% FMRP expression or 20% FMRP-positive neurons in FXS neurons normalizes hyperactivity.

This study creates a CRISPR-engineered mouse model of the 3q29 deletion, showing behavioral and growth deficits, and demonstrates that these effects are not solely due to Dlg1 haploinsufficiency.

This paper presents the largest case-control epigenome-wide association study (EWAS) for autism spectrum disorder (ASD) using blood DNA methylation data, finding no significant CpG sites but suggestive associations and concordance with brain samples.