Jennifer K. Lowe

Common and rare variant genetic contributions in African Americans with autism.

This study examines common and rare variant genetic contributions to autism in African Americans, highlighting differences in genetic effects and polygenic score transferability between European and African ancestries.

The Contributions of Rare Inherited and Polygenic Risk to ASD in Multiplex Families

This study identifies 74 ASD risk genes using whole genome sequencing of multiplex families and finds polygenic risk interacts with rare inherited variants.

A single cell transcriptomic analysis of human neocortical development

The paper defines single cell transcriptomic profiles of 40,000 human neocortical cells to identify cell types, developmental trajectories, and disease-related gene expression.

Whole genome sequencing in multiplex families reveals novel inherited and de novo genetic risk in autism

This study uses whole-genome sequencing in multiplex families to identify novel inherited and de novo genetic risk factors for autism, revealing 16 new ASD-risk genes and supporting 69 total genes.