Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

Yuqi Qiu, Thomas Arbogast, Sandra Martin Lorenzo, Hongying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, Shawn Cho, Omar Shanta, Timothy Pang, Christina Corsello, Curtis K. Deutsch, Claire Chevalier, Erica Ellen Davis, Lilia M. Iakoucheva, Yann Herault, Elias Nicholas Katsanis, Karen Messer, Jonathan Sebat*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Using 3D morphometric imaging, Qiu et al. demonstrate that large copy-number variants (CNVs) of 16p11.2 have significant effects on craniofacial structure that are conserved in humans and model organisms, and they demonstrate that these craniofacial phenotypes are attributable to the dosage effects of multiple genes within the CNV region.

Original languageEnglish (US)
Pages (from-to)3320-3328.e4
JournalCell reports
Issue number13
StatePublished - Sep 24 2019

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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