Sun Z - Search Results

1

CEP78 is mutated in a distinct type of Usher syndrome.

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. Fu Q, et al. Among authors: sun z. J Med Genet. 2017 Mar;54(3):190-195. doi: 10.1136/jmedgenet-2016-104166. Epub 2016 Sep 14. J Med Genet. 2017. PMID: 27627988 Free PMC article.

2

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R. Xu M, et al. Among authors: sun z. Hum Mol Genet. 2016 Apr 15;25(8):1479-88. doi: 10.1093/hmg/ddw022. Epub 2016 Jan 28. Hum Mol Genet. 2016. PMID: 26908613 Free PMC article.

3

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.

Zou X, Li H, Yang L, Sun Z, Yuan Z, Li H, Sui R. Zou X, et al. Among authors: sun z. Sci Rep. 2017 Feb 17;7:33713. doi: 10.1038/srep33713. Sci Rep. 2017. PMID: 28211458 Free PMC article.

4

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, 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, Cheetham ME, 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. Xu M, et al. Among authors: sun z. Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9. Am J Hum Genet. 2017. PMID: 28285769 Free PMC article.

5

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.

Dharmat R, Liu W, Ge Z, Sun Z, Yang L, Li Y, Wang K, Thomas K, Sui R, Chen R. Dharmat R, et al. Among authors: sun z. Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2483-2490. doi: 10.1167/iovs.16-19133. Invest Ophthalmol Vis Sci. 2017. PMID: 28460050 Free PMC article.

6

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

Sun Z, Zhou Q, Li H, Yang L, Wu S, Sui R. Sun Z, et al. Mol Vis. 2017 Dec 24;23:977-986. eCollection 2017. Mol Vis. 2017. PMID: 29386872 Free PMC article.

7

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

Li H, Yang L, Sun Z, Yuan Z, Wu S, Sui R. Li H, et al. Among authors: sun z. Sci Rep. 2018 Feb 5;8(1):2398. doi: 10.1038/s41598-018-20787-2. Sci Rep. 2018. PMID: 29402928 Free PMC article.

8

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.

Li H, Jones EM, Li H, Yang L, Sun Z, Yuan Z, Chen R, Dong F, Sui R. Li H, et al. Among authors: sun z. Ophthalmic Genet. 2018 Oct;39(5):569-576. doi: 10.1080/13816810.2018.1466337. Epub 2018 Jun 28. Ophthalmic Genet. 2018. PMID: 29952689 Free PMC article.

9

Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.

Zhang L, Sun Z, Zhao P, Huang L, Xu M, Yang Y, Chen X, Lu F, Zhang X, Wang H, Zhang S, Liu W, Jiang Z, Ma S, Chen R, Zhao C, Yang Z, Sui R, Zhu X. Zhang L, et al. Among authors: sun z. Hum Mol Genet. 2018 Dec 1;27(23):4157-4168. doi: 10.1093/hmg/ddy281. Hum Mol Genet. 2018. PMID: 30085091 Free PMC article.

10

PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.

Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. Zou X, et al. Among authors: sun z. Retina. 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. Retina. 2019. PMID: 30134391

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