Yang Y - Search Results

1

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.

Zhao S, Wang W, Wang Y, Han R, Fan C, Ni P, Guo F, Zeng F, Yang Q, Yang Y, Sun Y, Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Huang S, Liu Y, Chen B, Yan S, Chen Y, Ding H, Shang X, Xu X, Sun J, Peng Z. Zhao S, et al. Among authors: yang q, yang y. Eur J Hum Genet. 2021 Jan;29(1):194-204. doi: 10.1038/s41431-020-00714-8. Epub 2020 Sep 3. Eur J Hum Genet. 2021. PMID: 32884118 Free PMC article.

2

Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.

Sun Y, Wang L, Wei X, Zhu Q, Yang Y, Lan Z, Qu N, Chu Y, Wang Y, Yang S, Liang Y, Wang W, Yi X. Sun Y, et al. Among authors: yang s, yang y. Clin Chim Acta. 2013 Feb 18;417:57-61. doi: 10.1016/j.cca.2012.12.005. Epub 2012 Dec 13. Clin Chim Acta. 2013. PMID: 23247051

3

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.

Wei X, Dai Y, Yu P, Qu N, Lan Z, Hong X, Sun Y, Yang G, Xie S, Shi Q, Zhou H, Zhu Q, Chu Y, Yao F, Wang J, He J, Yang Y, Liang Y, Yang Y, Qi M, Yang L, Wang W, Wu H, Duan J, Shen C, Wang J, Cui L, Yi X. Wei X, et al. Among authors: yang l, yang g, yang y. Eur J Hum Genet. 2014 Jan;22(1):110-8. doi: 10.1038/ejhg.2013.82. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756440 Free PMC article.

4

Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome.

Wang L, Yang Y, Song J, Mao L, Wei X, Sun Y, Yang S, Mu F, Wang H, Niu Y. Wang L, et al. Among authors: yang s, yang y. J Child Neurol. 2015 May;30(6):772-6. doi: 10.1177/0883073814535488. Epub 2014 May 21. J Child Neurol. 2015. PMID: 24850569

5

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Liu Y, Wei X, Kong X, Guo X, Sun Y, Man J, Du L, Zhu H, Qu Z, Tian P, Mao B, Yang Y. Liu Y, et al. Among authors: yang y. PLoS One. 2015 Aug 14;10(8):e0133636. doi: 10.1371/journal.pone.0133636. eCollection 2015. PLoS One. 2015. PMID: 26274329 Free PMC article.

6

Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study.

Yao H, Yang C, Huang X, Yang L, Zhao W, Yin D, Qin Y, Mu F, Liu L, Tian P, Liu Z, Yang Y. Yao H, et al. Among authors: yang c, yang l, yang y. BMC Med Genet. 2016 Jul 22;17(1):49. doi: 10.1186/s12881-016-0307-1. BMC Med Genet. 2016. PMID: 27448395 Free PMC article.

7

Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing.

Xiao J, Guo X, Wang Y, Shao M, Wei X, Du L, Li L, Sun Y, Yang Y. Xiao J, et al. Among authors: yang y. Eur J Ophthalmol. 2017 Nov 8;27(6):791-796. doi: 10.5301/ejo.5000971. Eur J Ophthalmol. 2017. PMID: 28430325

8

Application of an improved targeted next generation sequencing method to diagnose non‑syndromic mental retardation in one step: A case report.

Wang W, Mao B, Wei X, Yin D, Li H, Mao L, Guo X, Sun Y, Yang Y. Wang W, et al. Among authors: yang y. Mol Med Rep. 2018 Jul;18(1):981-986. doi: 10.3892/mmr.2018.9031. Epub 2018 May 17. Mol Med Rep. 2018. PMID: 29845227

9

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y, Man J, Wan Y, Pan G, Du L, Li L, Yang Y, Qiu L, Gao Q, Dan H, Mao L, Cheng Z, Fan C, Yu J, Lin M, Kristiansen K, Shen Y, Wei X. Sun Y, et al. Among authors: yang y. Sci Rep. 2018 Aug 3;8(1):11646. doi: 10.1038/s41598-018-30151-z. Sci Rep. 2018. PMID: 30076350 Free PMC article.

10

Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China.

Wang Q, Xiang J, Sun J, Yang Y, Guan J, Wang D, Song C, Guo L, Wang H, Chen Y, Leng J, Wang X, Zhang J, Han B, Zou J, Yan C, Zhao L, Luo H, Han Y, Yuan W, Zhang H, Wang W, Wang J, Yang H, Xu X, Yin Y, Morton CC, Zhao L, Zhu S, Shen J, Peng Z. Wang Q, et al. Among authors: yang h, yang y. Genet Med. 2019 Oct;21(10):2231-2238. doi: 10.1038/s41436-019-0481-6. Epub 2019 Mar 20. Genet Med. 2019. PMID: 30890784 Free article.

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