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07/24/2019
Angelyn Thornton
No Subjects

Each month Levy Library showcases the achievements of Mount Sinai faculty and researchers by highlighting an article and its altmetrics. Altmetrics are alternative measures of impact that capture non-traditional data like abstract views, article downloads, and social media activity. Our altmetrics data is provided by the PlumX platform

 

This month we highlight: Identification of common genetic risk variants for autism spectrum disorderThis article was written in part by Niamh Mulins, Postdoctoral Fellow in Biomedical Sciences, Avraham Reichenberg, Professor in Psychiatry, Sven S. Sandin, Assistant Professor in Psychiatry, and Panagiotis Roussos, Assistant Professor in Psychiatry. 

 


 

Citation

Nature genetics, ISSN: 1546-1718, Vol: 51, Issue: 3, Page: 431-444

 

Abstract

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.

 

Genetic correlation with other traits

 

View the PlumX article profile

 

07/10/2019
Angelyn Thornton
No Subjects

 

Here at The Levy Library, we are consistently updating our subscriptions to provide the best resources for the communities of Mount Sinai Health System! Check out what's new: 

 

Reprotox Mobile App

Available for download through iTunes and Google Play, Reprotox is an app that provides fact sheets from the Reproductive Toxicology Center that you can search and read right on your personal device. Reprotox contains summaries on the effects of medications, chemicals, infections, and physical agents on pregnancy, reproduction, and development. Any person with a Mount Sinai email can create an account.

 

The Carlat Reports

Carlat Publishing provides clear, authoritative, engaging, independent psychiatric education to make you look forward to learning, with the goal of helping you feel smarter, more competent, and more confident in your ability to help your patients become happy. Available newsletters include: The Carlat Psychiatry Report, The Carlat Child Psychiatry Report, and The Carlat Addiction Treatment Report

 

The Journal of Drugs in Dermatology

The Journal of Drugs in Dermatology (JDD) is a peer-reviewed publication indexed with MEDLINE/PubMed. Founded in 2002, it offers one of the fastest routes to disseminate dermatologic information and is considered the fastest growing publication in dermatology. JDD present original articles, award-winning case reports, and timely features pertaining to new methods, techniques, drug therapy, and devices in dermatology that provide readers with peer reviewed content of the utmost quality.

 

 

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