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So far talkowski has created 14 blog entries.

August 2023

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

By |2023-08-29T07:50:11-04:00August 16th, 2023|Categories: Announcements, Publication|

In a recent paper published in the American Journal of Human Genetics, postdoctoral research fellow Chelsea Lowther and graduate student Elise Valkanas co-led a large-scale study to systematically evaluate genome sequencing as a single test to displace the sequential application of karyotype, chromosomal microarray, and exome sequencing for the diagnostic assessment of autism spectrum disorder [...]

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August 2020

Dr. Talkowski to become the new CGM Director

By |2020-08-14T14:04:41-04:00August 13th, 2020|Categories: Announcements|

We are delighted to announce that Michael E. Talkowski, PhD, has been selected to become the next Director of the Center for Genomic Medicine (CGM) at MGH beginning on September 1, 2020. Dr. Talkowski will be the third CGM Director, following two world-class scientists, Dr. Sekar Kathiresan and founding director Dr. James Gusella. With his [...]

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July 2020

gnomAD consortia Nature publications

By |2020-08-14T14:04:41-04:00July 13th, 2020|Categories: Announcements|

The Genome Aggregation Database (gnomAD) has published a collection of research articles and related content in Nature that describe and analyze human genetic variation. The Talkowski lab contributed to the flagship paper in addition to publishing our own contributing paper.

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February 2018

XDP Study Published in Cell

By |2022-10-24T17:11:09-04:00February 22nd, 2018|Categories: Announcements, Publication|Tags: |

X-linked Dystonia-Parkinsonism (XDP), is a rare Mendelian disorder predominantly observed on Panay island in the Philippines. The clinical phenotype most frequently combines features of dystonia and parkinsonism in a characteristic temporal progression. A region of the X-chromosome was linked to the disorder, yet the pathogenic mechanism has remained elusive. We demonstrate that this disorder is [...]

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October 2017

Chelsea Lowther joins the Talkowski Lab

By |2020-08-14T14:04:42-04:00October 11th, 2017|Categories: Announcements|

Chelsea joined the Talkowski laboratory in September 2017 as a postdoctoral fellow, after completing her PhD in Medical Science with Anne Bassett at the University of Toronto in Canada. In the Talkowski laboratory Chelsea will be working on the Developmental Genome Anatomy Project (DGAP) using whole-genome sequencing and computational tools to help identify new genetic [...]

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Xuefang Zhao joins the Talkowski Lab

By |2020-08-14T14:04:42-04:00October 11th, 2017|Categories: Announcements|

Xuefang joined the Talkowski lab in June 2017 as a postdoc fellow after receiving a Ph.D in Bioinformatics and a Masters in Statistics from the University of Michigan at Ann Arbor. She will be working as a member of the structural variation team pursuing applications of structural variation methods development to human disease cohort, with [...]

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March 2017

Kiana Mohajeri and Ryan Collins both awarded NSF Graduate Research Fellowships in genomics

By |2020-08-14T14:04:42-04:00March 28th, 2017|Categories: Announcements|

The Talkowski Lab is thrilled to announce the awarding of a fellowship grant to two of our PhD students, Ryan Collins and Kiana Mohajeri. Both Kiana and Ryan were awarded the Graduate Research Fellowship from the NSF in the field of genomics. Ryan and Kiana were chosen out of over 13,000 applications. There were a [...]

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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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