The paper identifies a critical noncoding superenhancer region essential for regulating anterior HOXA genes in craniofacial development, showing its deletion causes severe developmental defects in mice and a human patient.

Nature Communications · Jan 2, 2024Peer-reviewedDevelopmental Biology

Integrative analysis of transcriptomics in human craniofacial development reveals novel candidate disease genes

Tara N. Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Scarpa Wilderman, Kelsey R. Robinson, Tia Gordon, Jill Anne Rosenfeld, Jennifer VanOudenhove, Daryl A. Scott, Elizabeth J. Leslie, Justin L. Cotney

The paper identifies novel disease candidate genes in craniofacial development using transcriptomics data and coexpression networks.

Nature Communications · Aug 2, 2023Peer-reviewedGenomics

A bipartite boundary element restricts UBE3A imprinting to mature neurons.

Jack S. Hsiao, Noélle D. Germain, Andrea Scarpa Wilderman, Christopher E. Stoddard, Luke Wojenski, Geno J. Villafano, Leighton J. Core, Justin L. Cotney, Stormy J. Chamberlain

This study identifies a bipartite boundary element that restricts UBE3A antisense transcript expression to neurons, essential for UBE3A imprinting in Angelman syndrome.

Proceedings of the National Academy of Sciences · Jan 23, 2019Peer-reviewedGenetics

High Resolution Epigenomic Atlas of Early Human Craniofacial Development

Andrea Scarpa Wilderman, Jennifer VanOudenhove, Jeffrey Kron, James P. Noonan, Justin L. Cotney

The paper creates an epigenomic atlas of early human craniofacial development, identifies novel enhancers, and links them to HOXA genes involved in craniofacial abnormalities.

Cell Reports · May 1, 2018Peer-reviewedGenomics