GRIPT: a novel case-control analysis method for Mendelian disease gene discovery

por Wang, Jun, Zhao, Li, Wang, Xia, Chen, Yong, Xu, Mingchu, Soens, Zachry T., Ge, Zhongqi, Wang, Peter Ronghan, Wang, Fei, Chen, Rui
Publicado 2018

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy

por Porto, Fernanda B. O., Jones, Evan M., Branch, Justin, Soens, Zachry T., Maia, Igor Mendes, Sena, Isadora F. G., Sampaio, Shirley A. M., Simões, Renata T., Chen, Rui
Publicado 2017

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1

por Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui
Publicado 2016

The phenotypic variability of HK1-associated retinal dystrophy

por Yuan, Zhisheng, Li, Baiyu, Xu, Mingchu, Chang, Emmanuel Y., Li, Huajin, Yang, Lizhu, Wu, Shijing, Soens, Zachry T., Li, Yumei, Wong, Lee-Jun C., Lewis, Richard A., Sui, Ruifang, Chen, Rui
Publicado 2017

Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes

por Zhao, Li, Chen, Yiyun, Bajaj, Amol Onkar, Eblimit, Aiden, Xu, Mingchu, Soens, Zachry T., Wang, Feng, Ge, Zhongqi, Jung, Sung Yun, He, Feng, Li, Yumei, Wensel, Theodore G., Qin, Jun, Chen, Rui
Publicado 2016

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

por Boone, Philip M., Campbell, Ian M., Baggett, Brett C., Soens, Zachry T., Rao, Mitchell M., Hixson, Patricia M., Patel, Ankita, Bi, Weimin, Cheung, Sau Wai, Lalani, Seema R., Beaudet, Arthur L., Stankiewicz, Pawel, Shaw, Chad A., Lupski, James R.
Publicado 2013