About talkowski

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So far talkowski has created 13 blog entries.

July 2015

Characterizing the functional genomic consequences of a new autism gene

By |2022-10-31T15:31:42-04:00July 25th, 2015|Categories: Publication|

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 [...]

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Evaluating the range of effects from new genome editing techniques

By |2022-10-31T15:34:19-04:00July 25th, 2015|Categories: Publication|

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 [...]

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June 2015

Transcriptional profiling of a common microdeletion / duplication syndrome

By |2022-10-31T15:34:29-04:00June 8th, 2015|Categories: Announcements, Publication|

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 [...]

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