Celine A. Saulnier

Visual-motor integration deficits in 3q29 deletion syndrome

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

The clinical phenotype of autism spectrum disorder in individuals with 3q29 deletion syndrome

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.

A distinct cognitive profile in individuals with 3q29 deletion syndrome

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

Convergent and distributed effects of the schizophrenia-associated 3q29 deletion on the human neural transcriptome

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.

Comprehensive phenotyping of 3q29 deletion syndrome: recommendations for clinical care

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

Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry

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.