Shen Y - Search Results

1

Genome analysis and knowledge-driven variant interpretation with TGex.

Dahary D, Golan Y, Mazor Y, Zelig O, Barshir R, Twik M, Iny Stein T, Rosner G, Kariv R, Chen F, Zhang Q, Shen Y, Safran M, Lancet D, Fishilevich S. Dahary D, et al. Among authors: shen y. BMC Med Genomics. 2019 Dec 30;12(1):200. doi: 10.1186/s12920-019-0647-8. BMC Med Genomics. 2019. PMID: 31888639 Free PMC article.

2

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, Shen Y. Geng J, et al. Among authors: shen y. BMC Genomics. 2014 Dec 17;15(1):1127. doi: 10.1186/1471-2164-15-1127. BMC Genomics. 2014. PMID: 25516202 Free PMC article.

3

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population.

An Y, Duan W, Huang G, Chen X, Li L, Nie C, Hou J, Gui Y, Wu Y, Zhang F, Shen Y, Wu B, Wang H. An Y, et al. Among authors: shen y. BMC Med Genomics. 2016 Jan 8;9:2. doi: 10.1186/s12920-015-0163-4. BMC Med Genomics. 2016. PMID: 26742958 Free PMC article.

4

[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G].

Fan X, Xie BB, Zhang Q, Yi S, Geng GX, Yang Q, Luo JS, Wang J, Li C, Chen SK, Shen YP. Fan X, et al. Among authors: shen yp. Zhonghua Er Ke Za Zhi. 2018 Jul 2;56(7):545-549. doi: 10.3760/cma.j.issn.0578-1310.2018.07.014. Zhonghua Er Ke Za Zhi. 2018. PMID: 29996190 Chinese.

5

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.

Chen F, Yuan H, Wu W, Chen S, Yang Q, Wang J, Zhang Q, Gui B, Fan X, Chen R, Shen Y. Chen F, et al. Among authors: shen y. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):218-225. doi: 10.1002/ajmg.c.31698. Epub 2019 Mar 20. Am J Med Genet C Semin Med Genet. 2019. PMID: 30893510

6

[The arrival of the clinical whole genome era].

Zhang Q, He L, Shen YP. Zhang Q, et al. Among authors: shen yp. Zhonghua Er Ke Za Zhi. 2019 Jun 2;57(6):401-404. doi: 10.3760/cma.j.issn.0578-1310.2019.06.001. Zhonghua Er Ke Za Zhi. 2019. PMID: 31216794 Chinese.

7

A novel variant of IHH in a Chinese family with brachydactyly type 1.

Yang Q, Wang J, Tian X, Shen F, Lan J, Zhang Q, Fan X, Yi S, Li M, Shen Y. Yang Q, et al. Among authors: shen y, shen f. BMC Med Genet. 2020 Mar 24;21(1):60. doi: 10.1186/s12881-020-01000-6. BMC Med Genet. 2020. PMID: 32209048 Free PMC article.

8

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z, Su J, Li M, Yang Q, Yi S, Zheng H, Zhang Q, Chen F, Yi S, Lu W, Li W, Huang L, Xu J, Shen Y, Luo J. Qin Z, et al. Among authors: shen y. Front Genet. 2020 Jun 18;11:592. doi: 10.3389/fgene.2020.00592. eCollection 2020. Front Genet. 2020. PMID: 32625235 Free PMC article.

9

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.

Hu X, Wu D, Li Y, Wei L, Li X, Qin M, Li H, Li M, Chen S, Gong C, Shen Y. Hu X, et al. Among authors: shen y. BMC Med Genomics. 2020 Dec 4;13(1):181. doi: 10.1186/s12920-020-00831-9. BMC Med Genomics. 2020. PMID: 33276791 Free PMC article.

10

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Su J, Lu W, Li M, Zhang Q, Chen F, Yi S, Yang Q, Yi S, Zhou X, Huang L, Shen Y, Luo J, Qin Z. Su J, et al. Among authors: shen y. Mol Genet Genomic Med. 2021 Apr;9(4):e1624. doi: 10.1002/mgg3.1624. Epub 2021 Mar 16. Mol Genet Genomic Med. 2021. PMID: 33724704 Free PMC article.

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