Publications & News

SIG Meetups at The ASHG 2023 Annual Meeting: A Recap

ASHG recently held its 2023 Annual Meeting November 1 – 5 in Washington, DC. As a part of the programs offered, ASHG’s Shared Interest Groups (SIGs) held in-person meetups. The Shared Interest Groups were specifically created by ASHG’s Membership Engagement Committee (MEC) to provide a space for members who are interested in similar topics to... Read More

Santhosh Girirajan, MBBS, PhD, is a Professor of Genomics and the T. Ming Chu Professor of Biochemistry and Molecular Biology in the Department of Biochemistry and Molecular Biology and of Anthropology at Pennsylvania State University.

Inside AJHG: A Chat with Santhosh Girirajan

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? SG: My lab has been studying the mechanisms underlying the variable expressivity of rare variants in complex disorders like autism and intellectual disability. We observed that affected children inheriting a variably expressive rare variant (such as 16p12.1... Read More

Inside <em>HGG Advances</em>: A Chat with Thales Nepomuceno

Inside HGG Advances: A Chat with Thales Nepomuceno

Posted By: HGG Advances HGGA: what motivated you to start working on this project? TN: I have been involved in several BRCA1-related projects and what has always driven me is the clinical consequences of identifying carriers of BRCA1 germline pathogenic variants. These individuals are at substantially higher risk of developing breast and ovarian cancer than... Read More

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