Huang XF - Search Results

1

'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration.

Ran X, Cai WJ, Huang XF, Liu Q, Lu F, Qu J, Wu J, Jin ZB. Ran X, et al. Among authors: huang xf. Database (Oxford). 2014 Jun 17;2014:bau047. doi: 10.1093/database/bau047. Print 2014. Database (Oxford). 2014. PMID: 24939193 Free PMC article.

2

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Huang XF, Xiang P, Chen J, Xing DJ, Huang N, Min Q, Gu F, Tong Y, Pang CP, Qu J, Jin ZB. Huang XF, et al. Among authors: huang n. PLoS One. 2013 May 30;8(5):e63832. doi: 10.1371/journal.pone.0063832. Print 2013. PLoS One. 2013. PMID: 23737954 Free PMC article.

3

Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

Xing DJ, Zhang HX, Huang N, Wu KC, Huang XF, Huang F, Tong Y, Pang CP, Qu J, Jin ZB. Xing DJ, et al. Among authors: huang n, huang xf, huang f. PLoS One. 2014 Mar 7;9(3):e90599. doi: 10.1371/journal.pone.0090599. eCollection 2014. PLoS One. 2014. PMID: 24608809 Free PMC article.

4

R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.

Huang XF, Tu CS, Xing DJ, Gan DK, Xu GZ, Jin ZB. Huang XF, et al. Int J Ophthalmol. 2014 Feb 18;7(1):169-72. doi: 10.3980/j.issn.2222-3959.2014.01.31. eCollection 2014. Int J Ophthalmol. 2014. PMID: 24634885 Free PMC article.

5

SLC7A14 linked to autosomal recessive retinitis pigmentosa.

Jin ZB, Huang XF, Lv JN, Xiang L, Li DQ, Chen J, Huang C, Wu J, Lu F, Qu J. Jin ZB, et al. Among authors: huang xf, huang c. Nat Commun. 2014 Mar 27;5:3517. doi: 10.1038/ncomms4517. Nat Commun. 2014. PMID: 24670872 Free PMC article.

6

CFI-rs7356506 is a genetic protective factor for acute anterior uveitis in Chinese patients.

Wang Y, Huang XF, Yang MM, Cai WJ, Zheng MQ, Mao G, Pang CP, Jin ZB. Wang Y, et al. Among authors: huang xf. Br J Ophthalmol. 2014 Nov;98(11):1592-6. doi: 10.1136/bjophthalmol-2014-305296. Epub 2014 Jul 29. Br J Ophthalmol. 2014. PMID: 25075123

7

Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.

Wu J, Chen L, Tam OS, Huang XF, Pang CP, Jin ZB. Wu J, et al. Among authors: huang xf. Biomed Res Int. 2014;2014:302487. doi: 10.1155/2014/302487. Epub 2014 Jun 30. Biomed Res Int. 2014. PMID: 25101269 Free PMC article.

8

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB. Huang XF, et al. Among authors: huang f. Genet Med. 2015 Apr;17(4):271-8. doi: 10.1038/gim.2014.138. Epub 2014 Nov 6. Genet Med. 2015. PMID: 25356976 Free article.

9

Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.

Huang XF, Wu J, Lv JN, Zhang X, Jin ZB. Huang XF, et al. Genet Med. 2015 Apr;17(4):307-11. doi: 10.1038/gim.2014.193. Epub 2015 Jan 8. Genet Med. 2015. PMID: 25569437 Free article.

10

Response to Heller and Bolz.

Jin ZB, Huang XF. Jin ZB, et al. Among authors: huang xf. Genet Med. 2015 Jun;17(6):508-9. doi: 10.1038/gim.2015.48. Genet Med. 2015. PMID: 26035800 Free article. No abstract available.

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