A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review

por Ma, Deqiong, Marion, Robert, Punjabi, Netra Prasad, Pereira, Elaine, Samanich, Joy, Agarwal, Chhavi, Li, Jianli, Huang, Chih-Kang, Ramesh, K H, Cannizzaro, Linda A, Naeem, Rizwan
Publicado 2014

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants

por Delio, Maria, Patel, Kunjan, Maslov, Alex, Marion, Robert W., McDonald, Thomas V., Cadoff, Evan M., Golden, Aaron, Greally, John M., Vijg, Jan, Morrow, Bernice, Montagna, Cristina
Publicado 2015

Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder

por Berko, Esther R., Suzuki, Masako, Beren, Faygel, Lemetre, Christophe, Alaimo, Christine M., Calder, R. Brent, Ballaban-Gil, Karen, Gounder, Batya, Kampf, Kaylee, Kirschen, Jill, Maqbool, Shahina B., Momin, Zeineen, Reynolds, David M., Russo, Natalie, Shulman, Lisa, Stasiek, Edyta, Tozour, Jessica, Valicenti-McDermott, Maria, Wang, Shenglong, Abrahams, Brett S., Hargitai, Joseph, Inbar, Dov, Zhang, Zhengdong, Buxbaum, Joseph D., Molholm, Sophie, Foxe, John J., Marion, Robert W., Auton, Adam, Greally, John M.
Publicado 2014