Esra Sefik

A protective role for the cerebellum in cognitive aging

This study investigates the cerebellum's role in cognitive aging using large datasets, finding that cerebellar volume is associated with better cognitive outcomes and protection against decline.

Structural covariation between cerebellum and cerebral cortex is atypically modulated by thalamus in autism spectrum disorder

The paper investigates structural covariation between cerebellum, thalamus, and cerebral cortex in neurotypical and ASD children, finding altered coupling patterns in ASD.

Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion

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.

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.