Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

por Ulmer Carnes, Megan, Liu, Yangfan P., Allingham, R. Rand, Whigham, Benjamin T., Havens, Shane, Garrett, Melanie E., Qiao, Chunyan, Katsanis, Nicholas, Wiggs, Janey L., Pasquale, Louis R., Ashley-Koch, Allison, Oh, Edwin C., Hauser, Michael A.
Publicado 2014

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

por Frosk, Patrick, Arts, Heleen H, Philippe, Julien, Gunn, Carter S, Brown, Emma L, Chodirker, Bernard, Simard, Louise, Majewski, Jacek, Fahiminiya, Somayyeh, Russell, Chad, Liu, Yangfan P, Hegele, Robert, Katsanis, Nicholas, Goerz, Conrad, Del Bigio, Marc R, Davis, Erica E
Publicado 2017

Loss of delta catenin function in severe autism

por Turner, Tychele N., Sharma, Kamal, Oh, Edwin C., Liu, Yangfan P., Collins, Ryan L., Sosa, Maria X., Auer, Dallas R., Brand, Harrison, Sanders, Stephan J., Moreno-De-Luca, Daniel, Pihur, Vasyl, Plona, Teri, Pike, Kristen, Soppet, Daniel R., Smith, Michael W., Cheung, Sau Wai, Martin, Christa Lese, State, Matthew W., Talkowski, Michael E., Cook, Edwin, Huganir, Richard, Katsanis, Nicholas, Chakravarti, Aravinda
Publicado 2015