姓名：李杨 性别：女 职称：研究员、教授 招生院所：附属同仁医院 招生类型：科学学位(博) 科学学位(硕) 招生专业：眼科学(博) 眼科学(硕) 研究方向名称：眼科分子遗传学 电子信箱：yilbio@163.com


社会任职
1. 眼科杂志编委
2. 北京医师协会眼科专科医师分会葡萄膜炎与罕见病分委会副主任委员
3. 中华眼科杂志通讯编委
4. 国际眼科纵览杂志编委
5. 世界眼科遗传联盟中国分会理事兼委员
6. 中国医师协会眼科医师分会眼遗传并分委会副主任委员
个人简历
1. 198209-198707:首都医科大学 本科生
2. 198709-198912:北京同仁医院眼科 住院医生
3. 199001-19949:北京市眼科研究所 实习研究员,助理研究员
4. 199409-199707:首都医科大学 硕士研究生
5. 199709-199903:北京市眼科研究所 助理研究员\副研究员
6. 199904-201080:美国约翰霍普金斯大学威尔墨眼科研究所 访问
7. 200009-200108:美国克里夫兰临床中心的科尔眼科研究所 访问
8. 200109-:北京市眼科研究所 副研究员,研究员
9. 200409-201006:北京师范大学 在职博士
重要学术论文
1. 李杨*.结晶样视网膜色素变性临床与基础研究的机遇与挑战. 眼科. 2020,29:84-86.核心期刊
2. 许可、张晓慧、谢玥、叶汉文、由冰、李杨*.携带CYP4V2基因突变结晶样视网膜色素变性患者的表型特征. 眼科. 2020,29:93-97.核心期刊
3. 叶汉文、孙腾洋、许可、谢玥、由冰、李杨*.携带MYO7A基因致病突变Usher综合征患者的基因型和临床特征分析. 眼科. 2020,29:98-103.核心期刊
4. You B, Zhang X, Xu K, Xie Y, Ye H, Li Y*.Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia. Mol Vis. 2020,26:226-234.SCI
5. Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y*.Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. Br J Ophthalmol. 2019,doi:10.1136/bjophthalmol-2019-314281:【未填写起止页码】.SCI
6. Xiao T#, Xu K, Zhang Z, Xie Y, Li Y.Sector Retinitis Pigmentosa caused by mutations of the RHO gene. Eye. 2018,doi.org /10.1038/ s41433 -018- 0264-3:doi.org /10.1038/ s41433 -018- 0264-3.SCI
7. Zhang Z#, Xu K, Dong B, Peng X, Li Q, Jiang F, Xie Y, Tian L, Li Y*.Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy. Molecular Vision. 2018,24:700-711.SCI
8. Sun T#, Xu K, Ren Y, Xie Y, Zhang X, Tian L, and Li Y*..Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. . Invest Ophthalmol Vis Sci. 2018,59:1229-1237.SCI
9. 由冰#, 许可, 孙腾洋, 张晓慧, 谢玥 ,李杨*.Norrie病及家族渗出性玻璃体视网膜病变患者NDP基因突变分析及临床特征. 中华实验眼科杂志. 2018,36:537-541.核心期刊
10. 李杨*.遗传性眼病致病基因突变分析中应重视临床表型的评估. 中华实验眼科杂志. 2017,35:673-676.核心期刊
11. Tian L#, Sun T#, Xu K, Zhang X, Peng X, and Li Y*.Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.. Invest Ophthalmol Vis Sci.. 2017,58:3366–3375.SCI
12. 许可，孙旭光，谢玥，梁庆丰，张晓慧，李杨*. 角膜营养不良患者BIGH3基因突变特点及基因型-表型关系. 中华眼视光学和视觉科学杂志. 2016,18：:153-159.核心期刊
13. Jiang F, Pan Z, Xu F, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y*.Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.. Invest Ophthalmol Vis Sci. 2016,57:145-152.SCI
14. 田露，蒋凤，许可，张晓慧，孙腾洋，卢宁，彭晓燕，李杨*.国人Stargardt病患者ABCA4基因突变分析和表型特征. 眼科. 2016,25:219-224.
15. 蒋凤，陈杰琼，许可，张晓慧，李杨*.中国人X连锁遗传性视网膜劈裂症患者RS1基因突变分析及临床特征. 眼科. 2015,24:90-95.核心期刊
16. 谢玥，陈杰琼，许可，刘丽娟，张晓慧，蒋凤，董冰，李杨*.中国人可疑遗传性视神经萎缩患者OPA1基因突变分析及临床特征. 眼科. 2015,24:79-84.核心期刊
17. Jiang F, Xu K, Zhang X, Xie Y, Bai F, Li Y*.GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone–rod dystrophies. . Doc Ophthalmol. 2015,131:105–114.SCI
18. 李杨*.分子遗传学检测在散发视神经萎缩患者诊断中的作用. 眼科. 2015,24:73-75.核心期刊
19. 陈洁琼，许可，张晓慧，董冰，潘哲，李杨*.Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.. Molecular Vision. 2014,20:132-139.SCI
20. Chen J， Xu, K, Zhang X, Pan Z, Dong B, Li Y*. Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis. Mol Vis. 2014,20:132-9.SCI
21. 1. Chen J， Xu, K, Zhang X, Liu L, Jiang F, Dong B, Ren Y, Li Y*..Mutation Screening of Mitochondrial DNA as Well as OPA1 and OPA3 in a Chinese Cohort With Suspected Hereditary Optic Atrophy.. Invest Ophthalmol Vis Sci. 2014,55:6987-95.SCI
22. 李杨.先天性无虹膜症PAX6基因突变分析中应重视大片段缺失的检测. 国际眼科纵览. 2013,37:1-4.核心期刊
23. Zhao X, Ren Y, Zhang X, Chen C, Dong B, Li Y*.A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. Molecular vision. 2013,19:1039-46.SCI
24. Zhang X，Wang L, Wang J, Dong B, Li Y*. .Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. Molecular vision . 2012,18:203-210.SCI
25. Pan Z, Lu T, Zhang X, Dai H, Yan W, Bai F, Li Y.Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.. Molecular Vision. 2012,18:3018-20.SCI
26. 1. Zhang X, Zhang Q, Tong Y, Dai H, Zhao X, Bai F, Xu L, Li Y*. Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype.. Molecular Visison. 2011,17:548-557.SCI
27. 4. Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y*..Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. Molecular Vision. 2011,17:1537-52.SCI
28. 3. Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L, Li Y*.Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. Eye. 2011,doi:10.1038/eye.2011.215:215.SCI
29. 2. Zhao X, Yang CS, Tong Y, Zhang X, Xu L, Li Y*.Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.. Molecular vision. 2010,16:1728-35.SCI
30. Liu L, Dong B, Chen X, Li J, Li Y*.Identification of a novel ALMS1 mutation in a Chinese family with Alstrom syndrome. eye. 2009,23:1210-12.SCI
31. 3. Li Y, Deng T, Tong Y, Peng S, Dong B, He D.Identification of two novel mutations in Chinese families with autosomal dominant optic atrophy. Molecular vision. 2008,14:2451-2457.SCI
32. 4. Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, Li Y*.Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. Molecular vision. 2008,14:2067-2075.SCI
33. 3. Deng T, Dong B, Zhang X, Dai H, Li Y*. Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1 gene. Molecular vision. 2008,14:1229-1233.SCI
34. 曹志红，董冰，李杨*.国人常染色体显性先天性白内障家系致病基因的突变分析. 眼科. 2008,17:181-187.核心期刊
35. 2. Yu Z, Wang J, Peng S, Dong B, Li Y*.. Identification of a Novel VEGFR-3 missense Mutation in Chinese Family with Hereditary Lymphedema Type I. Journal of Genetics and Genomics. . 2007,34:861-867.核心期刊
36. 1. 张晓慧， 董冰， 严玮瑜， 单明华，李杨*.一个视网膜色素变性家系致病基因定位和CA4基因突变分析. 中华医学遗传学杂志，2007. 2007,24:670-673.核心期刊
37. 赵雪琴, 董冰，张红言，李杨*.先天性白内障一家系致病基因的排除性定位. 眼科. 2007,16:115-118.核心期刊
38. Li Y, Wang GL, Dong B, Sun X, Zhang K.A novel mutation of VMD2 gene in a Chinese family with Best Vitelliform macular dystrophy.. Ann Acad Med Singapore. 2006,35:408-10.SCI
39. Shan, MH, Dong, B., Zhao,Q., Wang, JZ., Li, GL, Yang, YS., Li, Y.*. Novel Mutations in the CYP4V2 Gene Associated with Bietti Crystalline Corneoretinal Dystrophy. Molecular Vision. 2005,11:738-743.SCI
40. 李杨*，董冰，胡爱莲，崔彤彤， 郑远远.A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa. 中华医学遗传学杂志. 2005,22:396-398.EI
41. Li, Y*, Sun X, Ren H,Dong B,Wang ZQ. Analysis of BIGH3 Gene Mutations in Corneal Dystrophy. 中华医学英文版. 2004,117:1418-1421.SCI
42. Li, Y.*, Wang J.Dong B, Man H.A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. Molecular Vision. 2004,10:668-671.SCI
主编或副主编的著作/译著
1. 《遗传性视神经病变》,主编,人民卫生出版社,201910
重要奖项
1. 2006年美国ARVO Travel Grant 1 200605