Abstract Reciprocal Copy Number Variants (CNVs) at the 16p11.2 PCA locus confer high risk for autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs).Morphometric MRI studies have revealed large and pervasive volumetric alterations in carriers of a 16p11.2 deletion.However, the specific neuroanatomical mechanisms underlying suc
A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation
Abstract Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation, but its molecular etiology remains poorly understood.We performed genome-wide association studies (GWAS) of FECD in the Million Veteran Program followed by multi-ancestry meta-analysis with the previous largest FECD GWAS, for a total of 3970 cas