Posted By: HGG Advances HGGA: What motivated you to start working on this project? HC: This project came out of an ongoing collaboration with Wendy K. Chung, MD, PhD. We have been working together on a series of neurodevelopmental disease genes—her team handles patient ascertainment and genomic analysis, and our lab contributes Drosophila-based functional genomics. MARK2 was... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? Authors: We came across the study by Valencia et al. that provided the neurodevelopmental disorder (NDD)-associated variants we used in our study. In that paper, it was shown that mutations causing neurodevelopmental disorders were most enriched in the chromatin-remodeling BAF complex,... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? SG: I’ve been very interested in understanding differences in gene regulation across human populations and how genetic ancestry shapes gene expression. However, when I started thinking seriously about studying these questions at the cell-type resolution, I realized that multi-ancestry single-cell datasets... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? Authors: Heart failure is common and deadly, but its genetics are hard to nail down because it’s highly polygenic, and many genome-wide association study signals haven’t been translated into actionable biology or treatment ideas. We were motivated by the strong genetic overlap between... Read More
For Immediate Release: Tuesday, October 14, 2025, 11:00 a.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, [email protected] Each year, editors of The American Journal of Human Genetics (AJHG) and Human Genetics and Genomics Advances (HGG Advances) recognize trainees and early career investigators for outstanding scientific contributions to the field of human genetics and genomics. We’re excited... Read More