Novel variants of ABCA4 in Han Chinese families with Stargardt disease

מאת Hu, Fang-Yuan, Gao, Feng-Juan, Li, Jian-kang, Xu, Ping, Wang, Dan-Dan, Zhang, Sheng-Hai, Wu, Ji-Hong
הוצא לאור ב BMC Med Genet (2020)

Mechanistic prediction of food effects for Compound A tablet using PBPK model

מאת Li, Xueqing, Shi, Lei, Tang, Xiuling, Wang, Qinghui, Zhou, Lun, Song, Wei, Feng, Zhijun, Ge, Jie, Li, Jian Kang, Yang, Lin, Wen, Aidong, Zhang, Yan
הוצא לאור ב Saudi J Biol Sci (2017)

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations

מאת Sun, Yan, Li, Jian‐kang, He, Wei, Wang, Zhuo‐shi, Bai, Jin‐yue, Xu, Ling, Xing, Bo, Zhang, Jian‐guo, Wang, Lusheng, Li, Wei, Chen, Fang
הוצא לאור ב Mol Genet Genomic Med (2020)

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

מאת Gao, Feng-Juan, Tian, Guo-Hong, Hu, Fang-Yuan, Wang, Dan-Dan, Li, Jian-Kang, Chang, Qing, Chen, Fang, Xu, Ge-Zhi, Liu, Wei, Wu, Ji-Hong
הוצא לאור ב BMC Ophthalmol (2020)

Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa

מאת Sun, Yan, Li, Wei, Li, Jian‐kang, Wang, Zhuo‐shi, Bai, Jin‐yue, Xu, Ling, Xing, Bo, Yang, Wen, Wang, Zi‐wei, Wang, Lu‐sheng, He, Wei, Chen, Fang
הוצא לאור ב Mol Genet Genomic Med (2020)

A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer

מאת Zheng, Yu, Wang, Hai-Lin, Li, Jian-Kang, Xu, Li, Tellier, Laurent, Li, Xiao-Lin, Huang, Xiao-Yan, Li, Wei, Niu, Tong-Tong, Yang, Huan-Ming, Zhang, Jian-Guo, Liu, Dong-Ning
הוצא לאור ב Int J Ophthalmol (2018)

Expanding the clinical and genetic spectrum of Heimler syndrome

מאת Gao, Feng-Juan, Hu, Fang-Yuan, Xu, Ping, Qi, Yu-He, Li, Jian-Kang, Zhang, Yong-Jin, Chen, Fang, Chang, Qing, Song, Fang, Shen, Si-Mai, Xu, Ge-Zhi, Wu, Ji-Hong
הוצא לאור ב Orphanet J Rare Dis (2019)

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

מאת Huang, Xiao-Yan, Zhuang, Hong, Wu, Ji-Hong, Li, Jian-Kang, Hu, Fang-Yuan, Zheng, Yu, Tellier, Laurent Christian Asker M., Zhang, Sheng-Hai, Gao, Feng-Juan, Zhang, Jian-Guo, Xu, Ge-Zhi
הוצא לאור ב Mol Vis (2017)

Panel‐based targeted exome sequencing reveals novel candidate susceptibility loci for age‐related cataracts in Chinese Cohort

מאת Li, Jian-Kang, Li, Li‐Li, Li, Wei, Wang, Zi‐Wei, Gao, Feng‐Juan, Hu, Fang-Yuan, Zhang, Sheng‐Hai, Qu, Shou-Fang, Huang, Jie, Wang, Lu-Sheng, Wu, Ji-Hong, Chen, Fang
הוצא לאור ב Mol Genet Genomic Med (2020)

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

מאת Wang, Dan-Dan, Gao, Feng-Juan, Li, Jian-Kang, Chen, Fang, Hu, Fang-Yuan, Xu, Ge-Zhi, Zhang, Jian-Guo, Sun, Hao-Xiang, Zhang, Sheng-Hai, Xu, Ping, Tian, Guo-Hong, Wu, Ji-Hong
הוצא לאור ב Invest Ophthalmol Vis Sci (2020)

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

מאת Gao, Feng-Juan, Wang, Dan-Dan, Li, Jian-Kang, Hu, Fang-Yuan, Xu, Ping, Chen, Fang, Qi, Yu-He, Liu, Wei, Li, Wei, Zhang, Sheng-Hai, Chang, Qing, Xu, Ge-Zhi, Wu, Ji-Hong
הוצא לאור ב Orphanet J Rare Dis (2021)

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy

מאת Li, Jian-Kang, Li, Wei, Gao, Feng-Juan, Qu, Shou-Fang, Hu, Fang-Yuan, Zhang, Sheng-Hai, Li, Li-Li, Wang, Zi-Wei, Qiu, Yong, Wang, Lu-Sheng, Huang, Jie, Wu, Ji-Hong, Chen, Fang
הוצא לאור ב Transl Vis Sci Technol (2020)

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

מאת Hu, Fang-Yuan, Li, Jian-kang, Gao, Feng-Juan, Qi, Yu-He, Xu, Ping, Zhang, Yong-Jin, Wang, Dan-Dan, Wang, Lu-Sheng, Li, Wei, Wang, Min, Chen, Fang, Shen, Si-Mai, Xu, Ge-Zhi, Zhang, Sheng-Hai, Chang, Qing, Wu, Ji-Hong
הוצא לאור ב Front Genet (2019)

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort

מאת Li, Wei, Qu, Ning, Li, Jian-Kang, Li, Yu-Xin, Han, Dong-Ming, Chen, Yi-Xi, Tian, Le, Shao, Kang, Yang, Wen, Wang, Zhuo-Shi, Chen, Xuan, Jin, Xiao-Ying, Wang, Zi-Wei, Liang, Chen, Qian, Wei-Ping, Wang, Lu-Sheng, He, Wei
הוצא לאור ב Front Cell Dev Biol (2021)