Ryan H. Purcell

This study identifies dysregulated synaptic microRNAs in 22q11DS neurons that drive aberrant glutamatergic transmission and synaptic plasticity, linking genetic deletion to psychosis risk.

This study shows that 3q29Del mice exhibit reduced cerebellar volume, motor and vocal impairments, and mitochondrial dysfunction, mirroring human 3q29Del phenotypes.

The paper investigates how neurodevelopmental disorder-associated variants affect mitochondrial proteins and finds convergent effects on mitochondrial translation in two high-risk CNVs.

The paper identifies haploinsufficient genes MRPL40 and SLC25A1 in the 22q11.2 locus and shows their genetic interactions contribute to cardiac and brain phenotypes in mice.

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.

The paper investigates the 3q29 genomic region, identifying novel haplotypes and breakpoint segments associated with deletion and duplication syndromes, and categorizes cases into distinct classes.

This study explores caregiver experiences and concerns following a diagnosis of 3q29 deletion syndrome, highlighting gaps in communication about future psychosis risk.

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.

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.