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 [...]