Esra Sefik, Kuaikuai Duan, Yiheng Li, Brittney Sholar, Lindsey Evans, Jordan Pincus, Zeena Ammar, Melissa M Murphy, Cheryl Klaiman, Celine A Saulnier, Stormi L Pulver, Adam E Goldman-Yassen, Ying Guo, Elaine F Walker, Longchuan Li, Jennifer G Mulle, Sarah Shultz
High-impact genetic variants associated with neurodevelopmental disorders provide biologically-defined entry points for mechanistic investigation. The 3q29 deletion (3q29Del) is one such variant, conferring a 40-100-fold increased risk for schizophrenia, as well as high risk for autism and intellectual disability. However, the mechanisms leading to neurodevelopmental disability remain largely unknown. Here, we report the first in vivo quantitative neuroimaging study in individuals with 3q29Del (N = 24) and neurotypical controls (N = 1608) using structural MRI...
May 14, 2024: Molecular Psychiatry