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

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

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