A Homozygous Missense Mutation in NEUROD1 Is Associated With Nonsyndromic Autosomal Recessive Retinitis Pigmentosa

Por Wang, Feng, Li, Huajin, Xu, Mingchu, Li, Hui, Zhao, Li, Yang, Lizhu, Zaneveld, Jacques E., Wang, Keqing, Li, Yumei, Sui, Ruifang, Chen, Rui
Publicado no Invest Ophthalmol Vis Sci (2015)

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

Por Zhao, Li, Wang, Feng, Wang, Hui, Li, Yumei, Alexander, Sharon, Wang, Keqing, Willoughby, Colin E., Zaneveld, Jacques E., Jiang, Lichun, Soens, Zachry T., Earle, Philip, Simpson, David, Silvestri, Giuliana, Chen, Rui
Publicado no Hum Genet (2014)

Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

Por Fu, Qing, Wang, Feng, Wang, Hui, Xu, Fei, Zaneveld, Jacques E., Ren, Huanan, Keser, Vafa, Lopez, Irma, Tuan, Han-Fang, Salvo, Jason S., Wang, Xia, Zhao, Li, Wang, Keqing, Li, Yumei, Koenekoop, Robert K., Chen, Rui, Sui, Ruifang
Publicado em 2013

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Por Wang, Xia, Wang, Hui, Sun, Vincent, Tuan, Han-Fang, Keser, Vafa, Wang, Keqing, Ren, Huanan, Lopez, Irma, Zaneveld, Jacques E, Siddiqui, Sorath, Bowles, Stephanie, Khan, Ayesha, Salvo, Jason, Jacobson, Samuel G, Iannaccone, Alessandro, Wang, Feng, Birch, David, Heckenlively, John R, Fishman, Gerald A, Traboulsi, Elias I, Li, Yumei, Wheaton, Dianna, Koenekoop, Robert K, Chen, Rui
Publicado em 2013

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Por Wang, Feng, Wang, Hui, Tuan, Han-Fang, Nguyen, Duy H., Sun, Vincent, Keser, Vafa, Bowne, Sara J., Sullivan, Lori S., Luo, Hongrong, Zhao, Ling, Wang, Xia, Zaneveld, Jacques E., Salvo, Jason S., Siddiqui, Sorath, Mao, Louise, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Wen, Cindy, Flagg, Ken, Ferreyra, Henry, Pei, Jacqueline, Khan, Ayesha, Ren, Huanan, Wang, Keqing, Lopez, Irma, Qamar, Raheel, Zenteno, Juan C., Ayala-Ramirez, Raul, Beatriz-Buentello-Volante, Fu, Qing, Simpson, David A., Li, Yumei, Sui, Ruifang, Silvestri, Giuliana, Daiger, Stephen P., Koenekoop, Robert K., Zhang, Kang, Chen, Rui
Publicado em 2013