Cell Development Deficiency and Gene Expression Dysregulation of Trisomy 21 Retina Revealed by Single-Nucleus RNA Sequencing

por Hu, Fang-Yuan, Gao, Feng-Juan, Xu, Ping, Zhang, Sheng-Hai, Wu, Ji-Hong
Publicado 2020

Mutational spectrum in a Chinese cohort with congenital cataracts

por Liu, Hong‐Li, Zhang, Dao‐Wei, Hu, Fang‐Yuan, Xu, Ping, Zhang, Sheng‐Hai, Wu, Ji‐Hong
Publicado 2023

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review

por Wang, Dan-Dan, Gao, Feng-Juan, Hu, Fang-Yuan, Zhang, Sheng-Hai, Xu, Ping, Wu, Ji-Hong
Publicado 2020

The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing

por Wang, Dan-Dan, Hu, Fang-Yuan, Gao, Feng-Juan, Zhang, Sheng-Hai, Xu, Ping, Tian, Guo-Hong, Wu, Ji-Hong
Publicado 2019

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 2020

Mutation Analysis of the RPGR Gene in a Chinese Cohort

por Liu, Hong-Li, Gao, Feng-Guan, Wang, Dan-Dan, Hu, Fang-Yuan, Xu, Ping, Chang, Qing, Xu, Ge-Zhi, Wu, Ji-Hong
Publicado 2022

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 2020

Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort

por Gao, Feng-Juan, Wang, Dan-Dan, Hu, Fang-Yuan, Xu, Ping, Chang, Qing, Li, Jian-Kang, Liu, Wei, Zhang, Sheng-Hai, Xu, Ge-Zhi, Wu, Ji-Hong
Publicado 2021

Low-dose IL-2 therapy limits the reduction in absolute numbers of circulating regulatory T cells in rheumatoid arthritis

por Zhang, Sheng-Xiao, Wang, Jia, Wang, Cai-Hong, Jia, Rui-Huan, Yan, Ming, Hu, Fang-Yuan, Liu, Guang-Ying, Liu, Xue-Yu, Luo, Jing, Gao, Chong, Li, Xiao-Feng
Publicado 2021

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in China

por Gao, Feng‐Juan, Dong, Jian‐Hong, Wang, Dan‐Dan, Chen, Fang, Hu, Fang‐Yuan, Chang, Qing, Xu, Ping, Liu, Wei, Li, Jian‐Kang, Huang, Ying, Wu, Ji‐Hong, Xu, Ge‐Zhi
Publicado 2020

Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family

por Qi, Yu-He, Gao, Feng-Juan, Hu, Fang-Yuan, Zhang, Sheng-Hai, Chen, Jun-Yi, Huang, Wan-Jing, Tian, Guo-Hong, Wang, Min, Gan, De-Kang, Wu, Ji-Hong, Xu, Ge-Zhi
Publicado 2017

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 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 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 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 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 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 2020

Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease

por Gao, Feng-Juan, Wang, Dan-Dan, Chen, Fang, Sun, Hao-Xiang, Hu, Fang-Yuan, Xu, Ping, Li, Jiankang, Liu, Wei, Qi, Yu-He, Li, Wei, Wang, Ming, Zhang, Shenghai, Xu, Ge-Zhi, Chang, Qing, Wu, Ji-Hong
Publicado 2021

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 2019

Low-Dose Sirolimus Immunoregulation Therapy in Patients with Active Rheumatoid Arthritis: A 24-Week Follow-Up of the Randomized, Open-Label, Parallel-Controlled Trial

por Wen, Hong-Yan, Wang, Jia, Zhang, Sheng-Xiao, Luo, Jing, Zhao, Xiang-Cong, Zhang, Chen, Wang, Cai-Hong, Hu, Fang-Yuan, Zheng, Xiao-Juan, Cheng, Ting, Niu, Hong-Qing, Liu, Guang-Ying, Yang, Wen-Xian, Yu, Na-Na, Ru, Jin-Li, Chen, Qi-Xiang, Lu, Xue-Chun, He, Pei-Feng, Gao, Chong, Li, Xiao-Feng
Publicado 2019