1. Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant. Issue 3 (26th October 2018) Authors: Huang, Junting; Fu, Jiewen; Fu, Shangyi; Yang, Lisha; Nie, Kailai; Duan, Chengxia; Cheng, Jingliang; Li, Yumei; Lv, Hongbin; Chen, Rui; Liu, Longqian; Fu, Junjiang Journal: British journal of ophthalmology Issue: Volume 103:Issue 3(2019) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing. (17th May 2015) Authors: Zhou, Qi; Cheng, Jingliang; Yang, Weichan; Tania, Mousumi; Wang, Hui; Khan, Md. Asaduzzaman; Duan, Chengxia; Zhu, Li; Chen, Rui; Lv, Hongbin; Fu, Junjiang Other Names: Deng Hao Academic Editor. Journal: BioMed research international Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗