Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.

por Nori Matsunami, Dexter Hadley, Charles H Hensel, G Bryce Christensen, Cecilia Kim, Edward Frackelton, Kelly Thomas, Renata Pellegrino da Silva, Jeff Stevens, Lisa Baird, Brith Otterud, Karen Ho, Tena Varvil, Tami Leppert, Christophe G Lambert, Mark Leppert, Hakon Hakonarson
Publicado 2013

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

por Xiao Chang, Yan Zhao, Cuiping Hou, Joseph Glessner, Lee McDaniel, Maura A. Diamond, Kelly Thomas, Jin Li, Zhi Wei, Yichuan Liu, Yiran Guo, Frank D. Mentch, Haijun Qiu, Cecilia Kim, Perry Evans, Zalman Vaksman, Sharon J. Diskin, Edward F. Attiyeh, Patrick Sleiman, John M. Maris, Hakon Hakonarson
Publicado 2017

Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene

por Gijs van Ingen, Jin Li, André Goedegebure, Rahul Pandey, Yun Rose Li, Michael E. March, Vincent W. V. Jaddoe, Marina Bakay, Frank D. Mentch, Kelly Thomas, Zhi Wei, Xiao Chang, Heather S. Hain, André G. Uitterlinden, Henriette A. Moll, Cornelia M. van Duijn, Fernando Rivadeneira, Hein Raat, Robert J. Baatenburg de Jong, Patrick M. Sleiman, Marc P. van der Schroeff, Hakon Hakonarson
Publicado 2016