Novel variants of ABCA4 in Han Chinese families with Stargardt disease

por Hu, Fang-Yuan, Gao, Feng-Juan, Li, Jian-kang, Xu, Ping, Wang, Dan-Dan, Zhang, Sheng-Hai, Wu, Ji-Hong
Publicado en BMC Med Genet (2020)

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

por 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
Publicado en Saudi J Biol Sci (2017)

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

por 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
Publicado en Mol Genet Genomic Med (2020)

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

por 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
Publicado en BMC Ophthalmol (2020)

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

por 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
Publicado en Mol Genet Genomic Med (2020)

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

por 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
Publicado en Int J Ophthalmol (2018)

Expanding the clinical and genetic spectrum of Heimler syndrome

por 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
Publicado en Orphanet J Rare Dis (2019)

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

por 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
Publicado en Mol Vis (2017)

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

por 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
Publicado en Mol Genet Genomic Med (2020)

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

por 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
Publicado en Invest Ophthalmol Vis Sci (2020)

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

por 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
Publicado en Orphanet J Rare Dis (2021)

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

por 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
Publicado en Transl Vis Sci Technol (2020)

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

por 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
Publicado en Front Genet (2019)

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

por 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
Publicado en Front Cell Dev Biol (2021)