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. [...]

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February 2016

Ryan Collins to join PhD program at Harvard Medical School in Fall 2016

By |2020-08-14T14:04:42-04:00February 29th, 2016|Categories: Announcements|

Ryan has accepted an offer to join the Bioinformatics and Integrative Genomics (BIG) PhD program at Harvard Medical School. He will be starting his PhD at HMS in fall 2016 and intends to continue his research on structural variation and genome architecture in human diseases into this next career stage as a PhD student.

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Joseph Glessner awarded 2015 FMD Fellowship

By |2020-08-14T14:04:42-04:00February 29th, 2016|Categories: Announcements|

Joseph Glessner has been awarded the Executive Committee On Research (ECOR) Tosteson & Fund for Medical Discovery (FMD) Postdoctoral Fellowship Award (15-2) for 9/1/2015-8/31/2016.

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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 [...]

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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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