March 2016

Strategy to recreate large DNA changes linked to autism

By |2022-10-31T15:33:53-04:00March 9th, 2016|Categories: Announcements, Publication|

Derek Tai, a Postdoctoral Fellow in the Talkowski Lab since 2013 comments on the lab's most recent Nature Neuroscience paper of which he is first author: "Recently, we developed a new CRISPR approach which can directly target perfectly homologous sequences in the segmental duplications and model the reciprocal dosage imbalances that occur via NAHR mechanisms. [...]

Comments Off on Strategy to recreate large DNA changes linked to autism

August 2015

Discovery of a new class of complex genomic variation that is remarkably common

By |2022-10-31T15:34:08-04:00August 25th, 2015|Categories: Announcements, Publication|

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 [...]

Comments Off on Discovery of a new class of complex genomic variation that is remarkably common

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 [...]

Comments Off on Characterizing the functional genomic consequences of a new autism gene

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 [...]

Comments Off on Evaluating the range of effects from new genome editing techniques

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 [...]

Comments Off on Transcriptional profiling of a common microdeletion / duplication syndrome
Go to Top