Daniel E. McGinn

This study investigates olfactory deficits and structural anomalies in the olfactory system among individuals with 22q11.2 deletion syndrome compared to psychosis spectrum and typically developing controls.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

This study examines congenital heart disease in individuals with distal 22q11.22-23 deletions, finding lower prevalence compared to proximal deletions and identifying specific cardiac anomalies.

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

The paper examines platelet parameters in 22q11.2 deletion syndrome patients, finding that deletion status of GP1BB, not surface expression, determines platelet counts and that counts decrease with age.