Transcriptional profiling of a common microdeletion / duplication syndrome

We published the first transcriptome sequencing study of a common, recurrent genomic disorder, 16p11.2 microdeletion and duplication.  This reciprocal copy number variant (CNV) syndrome is among the most common known causes of autism, and confers risk to a spectrum of development and psychiatric disorders.  Our study in lymphoblastoid cell lines from human families and cortical [...]