Melissa M. Murphy

This study describes musculoskeletal phenotypes in 3q29 deletion syndrome, finding high prevalence of congenital anomalies and bone fractures.

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

The paper evaluates feeding disorder symptoms in individuals with 3q29 deletion syndrome using a survey, finding higher incidence of feeding concerns compared to controls.

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

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

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.