Joseph F. Cubells

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

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

This study examines visual-motor integration deficits in 3q29 deletion syndrome, finding significant gender differences and associations with ADHD and cognitive ability.

This study evaluates clinical features of autism spectrum disorder in individuals with 3q29 deletion syndrome using standardized assessments, finding increased social disability in those without ASD and preserved social communication in those with ASD.

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.

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.