In a recently published manuscript, we demonstrated the potential impact of complex and cryptic chromosomal abnormalities in children with early onset neuropsychiatric disorders. In this study, we find that the mainstay of genetic testing for prenatal and pediatric developmental anomalies of unknown etiology, clinical microarray to detect copy number variants (CNVs), is insufficient to detect [...]
We previously published a paper that described the discovery of many new genes contributing to autism and neurodevelopment (Talkowski et al., 2012, Cell). Among these loci was a series of genes involved in chromatin modification and transcriptional regulation, which proposed a new pathway of genes involved in autism and neurodevelopment. Most prominent among those genes [...]
In two papers published in Cell Stem Cell in 2014, we demonstrated the genomic consequences of CRISPR/Cas9 genome editing technology, both at the targeted site of alteration and through genome-wide analyses to identify unintended mutagenesis through off-target effects. In both studies, our analyses suggest that the off-target effects of CRISPR/Cas9 are minimal, and that the [...]
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 [...]