This study shows that autism spectrum disorder risk is influenced by rare variants, polygenic risk, and sex, with sex-specific effects on genetic liability and behavioral traits.

Nature Genetics · Jun 2, 2022Peer-reviewedGenetic & Genomic Medicine

Oligogenic effects of 16p11.2 copy number variation on craniofacial development

Yuqi Qiu, Thomas Arbogast, Sandra Martín Lorenzo, Hongying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, Shawn Cho, Omar Shanta, Timothy Pang, Christina M. Corsello, Curtis K. Deutsch, Claire Chevalier, Erica E. Davis, Lilia M. Iakoucheva, , Jonathan L. Sebat

The paper investigates the oligogenic effects of 16p11.2 copy number variation on craniofacial development across species, showing that individual genes and their combinations influence facial structure.

Cell Reports · Sep 1, 2019Peer-reviewedGenetics

Paternally inherited noncoding structural variants contribute to autism

William M. Brandler, Danny Antaki, Madhusudan Gujral, Morgan L. Kleiber, Joe Whitney, Michelle S. Maile, Oanh Hong, Timothy R. Chapman, Shirley Tan, Prateek Tandon, Timothy Pang, Shih C. Tang, Keith K. Vaux, Yan Yang, Eoghan Donal Harrington, , Jonathan L. Sebat

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

Science · Apr 20, 2018Peer-reviewedGenomics