The phenotypic variability of HK1-associated retinal dystrophy
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
Published in Scientific reports (01.08.2017)
Published in Scientific reports (01.08.2017)
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Journal Article
A novel small deletion in the NHS gene associated with Nance-Horan syndrome
Li, Huajin, Yang, Lizhu, Sun, Zixi, Yuan, Zhisheng, Wu, Shijing, Sui, Ruifang
Published in Scientific reports (05.02.2018)
Published in Scientific reports (05.02.2018)
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Journal Article
CEP78 is mutated in a distinct type of Usher syndrome
Fu, Qing, Xu, Mingchu, Chen, Xue, Sheng, Xunlun, Yuan, Zhisheng, Liu, Yani, Li, Huajin, Sun, Zixi, Li, Huiping, Yang, Lizhu, Wang, Keqing, Zhang, Fangxia, Li, Yumei, Zhao, Chen, Sui, Ruifang, Chen, Rui
Published in Journal of medical genetics (01.03.2017)
Published in Journal of medical genetics (01.03.2017)
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Journal Article
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism
Zou, Xuan, Li, Hui, Yang, Lizhu, Sun, Zixi, Yuan, Zhisheng, Li, Huajin, Sui, Ruifang
Published in Scientific reports (17.02.2017)
Published in Scientific reports (17.02.2017)
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Journal Article
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Black, Graeme, Hall, Georgina, Gillespie, Rachel, Ramsden, Simon, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Lord, Emma, Nemeth, Andrea, Halford, Stephanie, Downes, Susan, Yu, Jing, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, Schorderet, Daniel F.
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
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Journal Article
Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance
Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez‐Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui
Published in Human mutation (01.11.2017)
Published in Human mutation (01.11.2017)
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Journal Article
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants
Li, Huajin, Jones, Evan M, Li, Hui, Yang, Lizhu, Sun, Zixi, Yuan, Zhisheng, Chen, Rui, Dong, Fangtian, Sui, Ruifang
Published in Ophthalmic genetics (01.10.2018)
Published in Ophthalmic genetics (01.10.2018)
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Journal Article
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance
Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez-Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui
Published in Human mutation (18.08.2017)
Published in Human mutation (18.08.2017)
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Journal Article