Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

por Li, Hui, Yao, Yanyi, Zhang, Chengcheng, Qin, Yayun, Zeng, Ling, Song, Jieping, Lu, Li, Wang, Wei, Liu, Lijun
Publicado 2023

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome

por Qin, Yayun, Gao, Pang, Yu, Shanshan, Li, Jingzhen, Huang, Yuwen, Jia, Danna, Tang, Zhaohui, Li, Pengcheng, Liu, Fei, Liu, Mugen
Publicado 2020

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

por Qin, Yayun, Yao, Yanyi, Liu, Nian, Wang, Bo, Liu, Lijun, Li, Hui, Gao, Tangxinzi, Xu, Runhong, Wang, Xiaoyan, Zhang, Fanglian, Song, Jieping
Publicado 2023

Retinal degeneration in rpgra mutant zebrafish

por Liu, Xiliang, Han, Shanshan, Liu, Fei, Yu, Shanshan, Qin, Yayun, Li, Jingzhen, Jia, Danna, Gao, Pan, Chen, Xiang, Tang, Zhaohui, Liu, Mugen, Huang, Yuwen
Publicado 2023

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

por Qin, Yayun, Xu, Hui, Yang, Jingmin, Wu, Yiming, Li, Hui, Wang, Bo, Liu, Lijun, Ren, Ding, Xu, Runhong, Li, Manman, Zhang, Chengcheng, Song, Jieping
Publicado 2022

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

por Lu, Zhaojing, Hu, Xuebin, Liu, Fei, Soares, Dinesh C., Liu, Xiliang, Yu, Shanshan, Gao, Meng, Han, Shanshan, Qin, Yayun, Li, Chang, Jiang, Tao, Luo, Daji, Guo, An-Yuan, Tang, Zhaohui, Liu, Mugen
Publicado 2017

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa

por Gao, Meng, Zhang, Su, Liu, Chunjie, Qin, Yayun, Archacki, Stephen, Jin, Ling, Wang, Yong, Liu, Fei, Chen, Jiaxiang, Liu, Ying, Wang, Jiuxiang, Huang, Mi, Liao, Shengjie, Tang, Zhaohui, Guo, An Yuan, Jiang, Fagang, Liu, Mugen
Publicado 2016

Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration

por Liu, Fei, Qin, Yayun, Huang, Yuwen, Gao, Pan, Li, Jingzhen, Yu, Shanshan, Jia, Danna, Chen, Xiang, Lv, Yuexia, Tu, Jiayi, Sun, Kui, Han, Yunqiao, Reilly, James, Shu, Xinhua, Lu, Qunwei, Tang, Zhaohui, Xu, Chengqi, Luo, Daji, Liu, Mugen
Publicado 2022

CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1

por Hu, Xuebin, Lu, Zhaojing, Yu, Shanshan, Reilly, James, Liu, Fei, Jia, Danna, Qin, Yayun, Han, Shanshan, Liu, Xiliang, Qu, Zhen, Lv, Yuexia, Li, Jingzhen, Huang, Yuwen, Jiang, Tao, Jia, Haibo, Wang, Qing, Liu, Jingyu, Shu, Xinhua, Tang, Zhaohui, Liu, Mugen
Publicado 2018

Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing

por Li, Jingzhen, Liu, Fei, Lv, Yuexia, Sun, Kui, Zhao, Yuntong, Reilly, Jamas, Zhang, Yangjun, Tu, Jiayi, Yu, Shanshan, Liu, Xiliang, Qin, Yayun, Huang, Yuwen, Gao, Pan, Jia, Danna, Chen, Xiang, Han, Yunqiao, Shu, Xinhua, Luo, Daji, Tang, Zhaohui, Liu, Mugen
Publicado 2021

Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis

por Wang, Jiuxiang, Liu, Ying, Liu, Fei, Huang, Changzheng, Han, Shanshan, Lv, Yuexia, Liu, Chun-Jie, Zhang, Su, Qin, Yayun, Ling, Lei, Gao, Meng, Yu, Shanshan, Li, Chang, Huang, Mi, Liao, Shengjie, Hu, Xuebin, Lu, Zhaojing, Liu, Xiliang, Jiang, Tao, Tang, Zhaohui, Zhang, Huiping, Guo, An-Yuan, Liu, Mugen
Publicado 2016