杨正林 研究员

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所在单位:四川省医学科学院·四川省人民医院

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论文成果

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部分代表性SCI论文:

[1] Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet. 2002;11(5):605-11. 第一作者,影响因子8.058

[2] A novel mutation in the RDS/peripherin gene causes adult-onset foveomacular dystrophy. Am J Ophthalmol. 2003;135(2):213-8. 第一作者,影响因子4.293

[3] Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). J Med Genet. 2004;41(8):e109. 并列第一作者;影响因子7.037

[4] Mutant carbonic anhydrase (CA4) impairs pH and cause retina photoreceptor degeneration. Hum Mol Genet. 2005;14(2):255-65. Epub 2004 Nov 24. 影响因子8.058

[5] Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration. Proc Natl Acad Sci U S A. 2005;102(11):4164-9. Epub 2005 Mar 4. 并列第一作者,影响因子9.771

[6] A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration. Science. 2006;314(5801):992-3. 第一作者,影响因子31.364

[7] A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family. J Med Genet. 2006;43(12):e57. 影响因子7.037

[8] HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population. Vision Res. 2007;47(24):3120-3. 通讯作者;影响因子2.330

[9] Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort. Cell Cycle. 2008;7(4):521-4. 通讯作者;影响因子4.999

[10] A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. Bone. 2008;43(3):591-5. 通讯作者;影响因子4.601

[11] Promoter polymorphism of the Erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A. 2008;105(19):6998-7003. 并列第一作者;并列通讯作者;影响因子9.771

[12] Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med. 2008;359(14):1456-63. 第一作者,影响因子 53.484

[13] Mutant PROM1 disrupts photoreceptor disk morphogenesis in mice and causes macular degeneration in humans. J Clin Invest. 2008;118(8):2908-2916. 第一作者,并列通讯作者;影响因子14.152

[14] Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. Proc Natl Acad Sci U S A. 2009;106(40):17105-10. 并列第一作者;影响因子9.771

[15] Genetic and functional dissection of HTRA1 and LOC387715 in age-related mcular degeneration. PLoS Genetics. 2010;6(2):e1000836. 第一作者,并列通讯作者;影响因子9.543

[16] An essential role of the cysteine-rich domain of FZD4 in norrin/WNT signaling and familial exudative vitreoretinopathy. J Biol Chem. 2011;286(12):10210-5. 通讯作者;影响因子5.328

[17] Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet. 2011;7(6):e1002084. 通讯作者;影响因子9.543

[18] Genetic variants at 13q12.12 are associated with high myopia in the han chinese population. Am J Hum Genet. 2011;88(6):805-13.通讯作者;影响因子11.680

[19] Genetic variants in HLA-DRB1 gene are associated with Kashin-Beck disease in the Tibetan population. Arthritis Rheum. 2011;63(11):3408-16. 通讯作者;影响因子8.435

[20] HTRA1 regulates angiogenesis through TGF-β family member GDF6. J Biol Chem. 2012;287(2):1520-6. 并列通讯作者;影响因子5.328

[21] ABCB6 Mutations Cause Ocular Coloboma. Am J Hum Genet. 2012;90(1):40-8. 通讯作者;影响因子11.680

[22] Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa. PLoS ONE. 2012;7(11): e50579. 通讯作者;影响因子4.1

[23] Complement factor H genotypes impact risk of age-related macular degeneration by interaction with oxidized phospholipids. Proc Natl Acad Sci U S A. 2012 Aug 21;109(34):13757-62. #并列通讯作者;影响因子9.7

[24] A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population. Invest Ophthalmol Vis Sci. 2013 Apr 26;54(4):2911-7. 通讯作者;影响因子3.6

[25] A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population. Hum Mol Genet. 2013 Jun 1;22(11):2325-33. 通讯作者;影响因子7.6

[26] Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population. PLoS One. 2013 Aug 23;8(8):e71411. 通讯作者;影响因子3.8

[27] A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration. PLoS One. 2013 Nov 11;8(11):e78274. 通讯作者;影响因子3.8