the Emory 3q29 Project

This study evaluates cognitive profiles in individuals with 3q29 deletion syndrome, finding verbal ability strengths and associations with intellectual disability and adaptive behavior.

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 identifies a recognizable craniofacial phenotype in 3q29 deletion syndrome using 2D facial photos and machine learning to distinguish cases from controls.

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 systematically describes 3q29 duplication syndrome using a registry cohort, identifying common early-life issues and social disability features similar to the reciprocal deletion syndrome.

This study examines neuropsychiatric phenotypes in individuals with 3q29 deletion syndrome, finding higher ASD prevalence, especially in females, and distinct ASD features compared to idiopathic ASD.