Sun Y - Search Results

1

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. Sci Rep. 2018 Aug 3;8(1):11646. doi: 10.1038/s41598-018-30151-z. Sci Rep. 2018. PMID: 30076350 Free PMC article.

2

Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B.

Wei X, Sun Y, Xie J, Shi Q, Qu N, Yang G, Cai J, Yang Y, Liang Y, Wang W, Yi X. Wei X, et al. Among authors: sun y. Clin Chim Acta. 2012 Nov 20;413(23-24):1866-71. doi: 10.1016/j.cca.2012.07.022. Epub 2012 Aug 8. Clin Chim Acta. 2012. PMID: 22898263

3

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. 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

4

A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.

Wang H, Sun Y, Wu W, Wei X, Lan Z, Xie J. Wang H, et al. Among authors: sun y. Clin Chim Acta. 2013 Aug 23;423:62-5. doi: 10.1016/j.cca.2013.04.015. Epub 2013 Apr 24. Clin Chim Acta. 2013. PMID: 23726269

5

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: sun 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.

6

A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.

Liu G, Wei X, Chen R, Zhou H, Li X, Sun Y, Xie S, Zhu Q, Qu N, Yang G, Chu Y, Wu H, Lan Z, Wang J, Yang Y, Yi X. Liu G, et al. Among authors: sun y. Gene. 2014 Jan 10;533(2):547-53. doi: 10.1016/j.gene.2013.10.021. Epub 2013 Oct 23. Gene. 2014. PMID: 24161253

7

Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.

You Y, Sun Y, Li X, Li Y, Wei X, Chen F, Ge H, Lan Z, Zhu Q, Tang Y, Wang S, Gao Y, Jiang F, Song J, Shi Q, Zhu X, Mu F, Dong W, Gao V, Jiang H, Yi X, Wang W, Gao Z. You Y, et al. Among authors: sun y. Genet Med. 2014 Aug;16(8):594-600. doi: 10.1038/gim.2013.197. Epub 2014 Mar 6. Genet Med. 2014. PMID: 24603436 Free article.

8

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: sun y. J Child Neurol. 2015 May;30(6):772-6. doi: 10.1177/0883073814535488. Epub 2014 May 21. J Child Neurol. 2015. PMID: 24850569

9

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: sun 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.

10

Correction: 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: sun y. PLoS One. 2015 Sep 22;10(9):e0139258. doi: 10.1371/journal.pone.0139258. eCollection 2015. PLoS One. 2015. PMID: 26393808 Free PMC article. No abstract available.

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