Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging

por Singh, Priti, Fragoza, Robert, Blengini, Cecilia S., Tran, Tina N., Pannafino, Gianno, Al-Sweel, Najla, Schimenti, Kerry J., Schindler, Karen, Alani, Eric A., Yu, Haiyuan, Schimenti, John C.
Publicado 2021

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

por Fragoza, Robert, Das, Jishnu, Wierbowski, Shayne D., Liang, Jin, Tran, Tina N., Liang, Siqi, Beltran, Juan F., Rivera-Erick, Christen A., Ye, Kaixiong, Wang, Ting-Yi, Yao, Li, Mort, Matthew, Stenson, Peter D., Cooper, David N., Wei, Xiaomu, Keinan, Alon, Schimenti, John C., Clark, Andrew G., Yu, Haiyuan
Publicado 2019

Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome

por Fulton, Sasha L., Wenderski, Wendy, Lepack, Ashley E., Eagle, Andrew L., Fanutza, Tomas, Bastle, Ryan M., Ramakrishnan, Aarthi, Hays, Emma C., Neal, Arianna, Bendl, Jaroslav, Farrelly, Lorna A., Al-Kachak, Amni, Lyu, Yang, Cetin, Bulent, Chan, Jennifer C., Tran, Tina N., Neve, Rachael L., Roper, Randall J., Brennand, Kristen J., Roussos, Panos, Schimenti, John C., Friedman, Allyson K., Shen, Li, Blitzer, Robert D., Robison, Alfred J., Crabtree, Gerald R., Maze, Ian
Publicado 2022