Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis L Li, X Xiao, S Li, X Jia, P Wang, X Guo, X Jiao, Q Zhang, JF Hejtmancik PLoS One 6 (5), e19458, 2011 | 126 | 2011 |
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa L Li, N Nakaya, VRM Chavali, Z Ma, X Jiao, PA Sieving, S Riazuddin, ... The American Journal of Human Genetics 87 (3), 400-409, 2010 | 59 | 2010 |
Homozygosity mapping and genetic analysis of autosomal recessive retinal dystrophies in 144 consanguineous Pakistani families L Li, Y Chen, X Jiao, C Jin, D Jiang, M Tanwar, Z Ma, L Huang, X Ma, ... Investigative ophthalmology & visual science 58 (4), 2218-2238, 2017 | 44 | 2017 |
Prevalence and causes of visual impairment among the elderly in Nantong, China L Li, H Guan, P Xun, J Zhou, H Gu Eye 22 (8), 1069-1075, 2008 | 39 | 2008 |
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa L Li, X Jiao, I D’Atri, F Ono, R Nelson, CC Chan, N Nakaya, Z Ma, Y Ma, ... PLoS genetics 14 (8), e1007504, 2018 | 38 | 2018 |
南通市新城桥街道 60 岁及以上人群盲和低视力的现况调查 李琳, 管怀进, 周激波, 石海红, 荀鹏程, 顾海雁, 解正高, 陈钦进, 孙建权 中华眼科杂志 42 (9), 802-807, 2006 | 38 | 2006 |
Association between polymorphism rs11200638 in the HTRA1 gene and the response to anti-VEGF treatment of exudative AMD: a meta-analysis Y Zhou, C Chen, Y Wang, Y Tong, X Fang, L Li, Z Wang BMC ophthalmology 17, 1-9, 2017 | 29 | 2017 |
南通市新城桥街道 60 岁及以上人群白内障流行病学调查 李琳, 管怀进, 周激波, 荀鹏程, 顾海雁, 石海红, 解正高, 陈钦进, 孙建权 中国实用眼科杂志 24 (7), 752-757, 2006 | 28 | 2006 |
Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP X Xiao, W Li, P Wang, L Li, S Li, X Jia, W Sun, X Guo, Q Zhang Molecular Vision 17, 2049, 2011 | 27 | 2011 |
Echinacoside protects retinal ganglion cells from ischemia/reperfusion-induced injury in the rat retina L Li, YF Wang, XH Qin, J Zhang, ZZ Zhang Molecular Vision 24, 746, 2018 | 24 | 2018 |
A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p S Naz, SA Riazuddin, L Li, M Shahid, S Kousar, PA Sieving, ... American journal of ophthalmology 149 (5), 861-866, 2010 | 20 | 2010 |
Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy L Huang, S Li, X Xiao, X Jia, W Sun, Y Gao, L Li, P Wang, X Guo, Q Zhang Neuroscience letters 541, 179-183, 2013 | 17 | 2013 |
Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations L Li, X Xiao, S Li, X Jiao, JF Hejtmancik, Q Zhang Molecular vision 17, 3326, 2011 | 13 | 2011 |
AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration D Li, C Jin, X Jiao, L Li, T Bushra, MA Naeem, NH Butt, T Husnain, ... Molecular vision 20, 1, 2014 | 8 | 2014 |
Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31. 3–q32. 1 L Li, X Xiao, C Yi, X Jiao, X Guo, JF Hejtmancik, Q Zhang Journal of human genetics 57 (12), 756-759, 2012 | 7 | 2012 |
Amblyopia and refractive status in congenital ptosis: the effect and timing of surgical correction X Wu, J Zhang, X Ding, Y Cao, X Zhu, R Li, L Li, M Lin, J Li Annals of Plastic Surgery 87 (1), 49-53, 2021 | 6 | 2021 |
Diagnosis strategies of Congenital Fibrosis of the Extraocular Muscles (CFEOM) Families L Li, Q Shen, X Jiao, JF Hejtmancik, X Fan INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 59 (9), 2018 | 2 | 2018 |
Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa L Li, X Jiao, I D’Atri, F Ono, R Nelson, CC Chan, N Nakaya, Z Ma, Y Ma, ... Dryad, 2019 | | 2019 |