近五年通讯作者文章：

1.        Wu S, Zhu T,Sun Z, Wei X, Han X, Zou X, Sui R. Generation of a human induced pluripotentstem cell line from a Bietti crystalline corneoretinal dystrophy patient withCYP4V2 mutations. Stem Cell Res. 2021 May;53:102330. doi:10.1016/j.scr.2021.102330. Epub 2021 Apr 7.PMID: 33857831

2.      Zou X, Yao F,Li F, Wu S, Li H, Sun Z, Zhu T, Wei X, Li D, Sui R. Clinical characterization and theimproved molecular diagnosis of autosomal dominant cone-rod dystrophy inpatients with SCA7. Mol Vis. 2021 May 7;27:221-232. PMID: 34012225

3.      Luo M, Lin Z,Zhu T, Jin M, Meng D, He R, Cao Z, Shen Y, Lu C, Cai R, Zhao Y, Wang X, Li H,Wu S, Zou X, Luo G, Cao L, Huang M, Jiao H, Gao H, Sui R, Zhao C, Ma X, Cao M. Disrupted intraflagellar transportdue to IFT74 variants causes Joubert syndrome. Genet Med. 2021 Feb2. doi: 10.1038/s41436-021-01106-z. PMID: 33531668

4.      Sun Z, YangL, Li H, Zou X, Wang L, Wu S, Zhu T, Wei X, Zhong Y, Sui R. Clinical and genetic analysis of the ABCA4gene associated retinal dystrophy in a large Chinese cohort. Exp EyeRes. 2021 Jan;202:108389. doi: 10.1016/j.exer.2020.108389. PMID: 33301772

5.      Wu S, Sun Z,Zhu T, Weleber RG, Yang P, Wei X, Pennesi ME, Sui R. Novel variants in PNPLA6 causingsyndromic retinal dystrophy. Exp Eye Res. 2021 Jan;202:108327. doi:10.1016/j.exer.2020.108327. Epub 2020 Oct 22.PMID: 33141049

6.      Sun Z, Wu S,Zhu T, Li H, Wei X, Du H, Sui R. Variants at codon 838 in the GUCY2D generesult in different phenotypes of cone rod dystrophy. OphthalmicGenet. 2020 Dec;41(6):548-555. doi: 10.1080/13816810.2020.1807026. Epub 2020Aug 18.PMID: 32811265

 7.    Zou X, FangS, Wu S, Li H, Sun Z, Zhu T, Wei X, SuiR. Detailed comparison of the phenotype between variants in exon 1-14 andORF15 in male patients with RPGR-associated retinal dystrophies. Exp Eye Res.2020 Jul 20:108147. doi: 10.1016/j.exer.2020.108147. Online ahead of print.PMID: 32702353

8.        Yang L, JooK, Tsunoda K, Kondo M, Fujinami Y, ArnoG, Pontikos N, Liu X, Toshihide Kurihara T, Tsubota K,

Iwata T, Li H, Zou X, Wu S, Sun Z, Ahn S, Kim M, Mun Y, Park K, Robson A,Miyake Y, Woo S, Sui R, Fujinami K, for the East Asia Inherited Retinal DiseaseSociety study group. Spatial Functional Characteristics of East Asian Patientswith Occult Macular Dystrophy (Miyake disease); EAOMD Report No.2, Am JOphthalmol. 2020 Jul 21:S0002-9394(20)30382-2. doi: 10.1016/j.ajo.2020.07.025.Online ahead of print.PMID: 32707201

9.        Zhu T, ChenDF, Wang L, Wu S, Wei X, Li H, Jin ZB, SuiR. USH2A variants in Chinese patients with Usher syndrome type II andnon-syndromic retinitis pigmentosa. Br J Ophthalmol. 2020 Jul 16: bjophthalmol-2019-315786.doi: 10.1136/bjophthalmol-2019-315786. Epub ahead of print. PMID: 32675063.

10.        Li H, Li H,Yang L, Sun Z, Wu S, Sui R. Clinicaland genetic study on two Chinese families with Wagner vitreoretinopathy.Ophthalmic Genet. 2020 Jul 6:1-8. doi: 10.1080/13816810.2020.1786843. Epubahead of print. PMID: 32623950.

11.        Qu B, Wu S,Jiao G, Zou X, Li Z, Guo L, Sun X, Huang C, Sun Z, Zhang Y, Li H, Zhou Q, Sui R, Li W. Treating Bietticrystalline dystrophy in a high-fat diet-exacerbated murine model using genetherapy. Gene Ther. 2020 Jun 1. doi:10.1038/s41434-020-0159-3. Epub ahead ofprint. PMID: 32483213.

12.        Han X, WuS, Wang M, Li H, Huang Y, Sui R.Genetic andclinical characterization of mainland Chinese patients with sialidosis type 1.Mol Genet Genomic Med. 2020 May 26:e1316. doi: 10.1002/mgg3.1316. 

13.        Han X, Wu S, Li H, Zhu T, Wei X, Zhou Q, Sui R. CLINICALCHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTSWITH CHOROIDEREMIA. Retina. 2020 Jan 7.

14.        朱田，李蕙，王雷，卫星，吴世靖，孙子系，睢瑞芳.KCNV2相关视锥细胞营养不良患者基因及临床特征.中华实验眼科杂志. 2020,38(4):312-318.

15.        Wu S, Zou X, Sun Z, Zhu T, Wei X, Sui R. Unilateralretinocytoma associated with a variant in the RB1 gene. Mol Genet Genomic Med. 2020 Jan 29:e1156. doi:10.1002/mgg3.1156. [Epub ahead of print] PMID:31997559

16.     Zhang Y, Hong Q, Cao C, Yang L, Li Y, Hai T, Zhang H, Zhou Q, Sui R,Zhao J. A novel porcine model reproduces human oculocutaneous albinism type II.Cell Discov. 2019 Oct 8;5:48. doi: 10.1038/s41421-019-0117-7. eCollection 2019.PubMed PMID: 31636960; PubMed Central PMCID: PMC6796836.

17.      Pan H, Wu S, Wang J, Zhu T, Li T, Wan B, Liu B, LuoY, Ma X, Sui R, Wang B. TNFRSF21mutations cause high myopia. J Med Genet. 2019 Oct;56(10):671-677. doi:10.1136/jmedgenet-2018-105684.

18.      Fujinami K, Yang L, Joo K, Tsunoda K, Kameya S,Hanazono G, Fujinami-Yokokawa Y, Arno G, Kondo M, Nakamura N, Kurihara T,Tsubota K, Zou X, Li H, Park KH,Iwata T, Miyake Y, Woo SJ, Sui R; East Asia Inherited Retinal Disease Society study group.Clinical and Genetic Characteristics of East Asian Patients with Occult MacularDystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies ReportNumber 1. Ophthalmology. 2019Oct;126(10):1432-1444.doi:10.1016/j.ophtha.2019.04.032.

19.      Wu S, Zhong L, Sun Z, Zhu T, Song H, Sui R. Ocular Features in ChinesePatients with Blau Syndrome. Ocul Immunol Inflamm. 2019 Feb 26:1-7. doi:1080/09273948.2019.1569239.

20.      Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, SunZ, Li H, Li Y, Dong F, Chen R, Sui R.PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina.2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242.

21.      Zhang L, Sun Z, Zhao P, Huang L, Xu M, Yang Y, ChenX, Lu F, Zhang X, Wang H, Zhang S, Liu W, Jiang Z, Ma S, Chen R, Zhao C, YangZ, Sui R, Zhu X. Whole-exomesequencing revealed HKDC1 as a candidate gene associated withautosomal-recessive retinitis pigmentosa. Hum Mol Genet. 2018 Dec1;27(23):4157-4168. doi:10.1093/hmg/ddy281.

22.      Li H, Jones EM, Li H, Yang L, Sun Z, Yuan Z, ChenR, Dong F, Sui R. Clinical and geneticfeatures of eight Chinese autosomal-dominant optic atrophy pedigrees with sixnovel OPA1 pathogenic variants. Ophthalmic Genet. 2018 Oct;39(5):569-576. doi: 10.1080/13816810.2018.1466337

23.      吴世靖，睢瑞芳. CRISPR/Cas9技术在遗传性眼病基因治疗中的应用. .中华实验眼科杂志,2018,36(11):892-896.

24.   李蕙,杨丽珠,邹绚,孙子系,睢瑞芳.癌症相关性视网膜病变的临床特征[J].中华实验眼科杂志,2018,36(10):786-790.

25.      Li H, Yang L, Sun Z, Yuan Z, Wu S, Sui R. A novel smalldeletion in the NHS gene associated with Nance-Horan syndrome. Sci Rep. 2018 Feb 5;8(1):2398. doi:10.1038/s41598-018-20787-2.

26.   韩筱煦,李蕙,吴世靖,孙子系,周崎,睢瑞芳.中国无脉络膜症患者自然病程研究[J].中华实验眼科杂志,2018,36(07):519-525.

27.      Sun Z, Zhou Q, Li H, Yang L, Wu S, Sui R. Mutations in crystallingenes result in congenital cataract associated with other ocular abnormalities. Mol Vis. 2017 Dec 24;23:977-986

28.      Zhou Q, Yao F, Wang F, Li H, Chen R, Sui R. A heterozygousmutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX). Am J Med Genet A. 2017 Nov 14. doi:10.1002/ajmg.a.38501.            

29.   李蕙,姜茹欣,睢瑞芳.一真性小眼球家系的临床及视觉电生理特征[J].中华眼视光学与视觉科学杂志,2017,19(03):136-140.

30.      Zhou Q, Yao F, Han X, Li H, Yang L, Sui R. Rep1 copynumber variation is an important genetic cause of choroideremia in Chinesepatients. ExpEye Res. Exp Eye Res. 2017 Nov;164:64-73. doi: 10.1016/j.exer.2017.07.016.                               

31.      Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S,Soens ZT, Li Y, Wong LC, Lewis RA, Sui R,Chen R. The phenotypicvariability of HK1-associated retinal dystrophy. Sci Rep. 2017 Aug 1;7(1):7051. doi: 10.1038/s41598-017-07629-3.                  

32.      Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, WangK, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, ZhaoP, Porto FB, Sallum J, Koenekoop RK, SuiR, Chen R. Leveragingsplice-affecting variant predictors and a minigene validation system toidentify Mendelian disease-causing variants amongst exon-captured variants ofuncertain significance. Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294.     

33.      Dharmat R, Liu W, Ge Z, Sun Z, Yang L, Li Y, WangK, Thomas K, Sui R, Chen R. IFT81 asa Candidate Gene for Nonsyndromic Retinal Degeneration. Invest Ophthalmol VisSci. 2017 May 1;58(5):2483-2490. doi: 10.1167/iovs.16-19133. PubMed PMID:28460050; PubMed Central PMCID: PMC5413215. 

34.   孙子系,杨丽珠,李华晋,睢瑞芳.青年男性同时患Hermansky-Pudlak综合征及斑块状角膜营养不良一例[J].中华眼视光学与视觉科学杂志,2017,19(03):190-192                                      

35.      Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A,Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, BabinoD, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L,Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M,Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, CheethamME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z,von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium,Amiel J, Hardcastle AJ, Ayuso C, Sui R,Chen R, Allikmets R, Schorderet DF. Mutations in the Spliceosome ComponentCWC27 Cause Retinal Degeneration with or without Additional DevelopmentalAnomalies. Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008.Epub 2017 Mar 9. PubMed PMID: 28285769; PubMed Central PMCID: PMC5384039.    

36.      Zou X, Li H, Yang L, Sun Z, Yuan Z, Li H, Sui R. Molecular genetic and clinicalevaluation of three Chinese families with X-linked ocular albinism. Sci Rep.2017 Feb 17;7:33713. doi: 10.1038/srep33713. PubMed PMID: 28211458;               

37.      Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H,Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, Chen R. CEP78 is mutated in a distinct type of Usher syndrome. J Med Genet. 2017 Mar;54(3):190-195. doi:10.1136/jmedgenet-2016-104166.   

38.   杨丽珠,睢瑞芳.副肿瘤性视网膜病变的发病机制及临床特点[J].中华实验眼科志,2016,34(05):476-480.

39.     Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, ZhaoL, Li Y, Kimchi A, Sharon D, Sui R,Endo T, Koenekoop RK, Chen R. Mutations inPOMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 Apr 15;25(8):1479-88. doi:10.1093/hmg/ddw022.    

40.   睢瑞芳.认识糖尿病视网膜病变易感基因研究现状与挑战,提高糖尿病视网膜病变易感基因研究水平[J].中华眼底病杂志,2016,32(02):122-125.

35.   姚凤霞,睢瑞芳.精准医疗在眼科遗传病的应用前景和展望[J].中华眼视光学与视觉科学杂志,2016,18(03):133-136.