Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

A Guilmatre, C Dubourg, AL Mosca… - Archives of general …, 2009 - jamanetwork.com
Context Results of comparative genomic hybridization studies have suggested that rare
copy number variations (CNVs) at numerous loci are involved in the cause of mental
retardation, autism spectrum disorders, and schizophrenia. Objectives To provide an
estimate of the collective frequency of a set of recurrent or overlapping CNVs in 3 different
groups of cases compared with healthy control subjects and to assess whether each CNV is
present in more than 1 clinical category. Design Case-control study. Setting Academic …