Yao H - Search Results

1

Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.

Dong Y, Yi Y, Yao H, Yang Z, Hu H, Liu J, Gao C, Zhang M, Zhou L, Asan, Yi X, Liang Z. Dong Y, et al. Among authors: yao h. BMC Med Genet. 2016 Mar 15;17:23. doi: 10.1186/s12881-016-0286-2. BMC Med Genet. 2016. PMID: 26980296 Free PMC article.

2

A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center.

Luo Y, Hu H, Jiang L, Ma Y, Zhang R, Xu J, Pan Y, Long Y, Yao H, Liang Z. Luo Y, et al. Among authors: yao h. Eur J Med Genet. 2020 Sep;63(9):104001. doi: 10.1016/j.ejmg.2020.104001. Epub 2020 Jul 2. Eur J Med Genet. 2020. PMID: 32622960

3

An assessment of the analytical performance of non-invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717-patient sample in a single prenatal diagnosis Centre in China.

Luo Y, Hu H, Zhang R, Ma Y, Pan Y, Long Y, Hu B, Yao H, Liang Z. Luo Y, et al. Among authors: yao h. J Gene Med. 2021 Sep;23(9):e3362. doi: 10.1002/jgm.3362. Epub 2021 Jun 14. J Gene Med. 2021. PMID: 33973298

4

A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing.

Dong Z, Jiang L, Yang C, Hu H, Wang X, Chen H, Choy KW, Hu H, Dong Y, Hu B, Xu J, Long Y, Cao S, Chen H, Wang WJ, Jiang H, Xu F, Yao H, Xu X, Liang Z. Dong Z, et al. Among authors: yao h. Hum Mutat. 2014 May;35(5):625-36. doi: 10.1002/humu.22541. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24610732

5

[Prenatal diagnosis of a case with combined Wolf-Hirschhorn syndrome and Jacobsen syndrome].

Dong Y, Hu H, Hu H, Zhang R, Hu B, Long Y, Xu G, Yao H. Dong Y, et al. Among authors: yao h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Aug;32(4):512-4. doi: 10.3760/cma.j.issn.1003-9406.2015.04.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26252097 Chinese.

6

[Positive maternal blood cfDNA test caused by confined placental mosaicism in a case].

Gao Y, Yao H, Su F, Zhang R, Hu H, Xu J, Xu L, Zhao L, Chen F, Liang Z. Gao Y, et al. Among authors: yao h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jun 10;37(6):627-628. doi: 10.3760/cma.j.issn.1003-9406.2020.06.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32472538 Chinese. No abstract available.

7

Prenatal diagnosis of familial submicroscopic duplication at 18q22.3 without phenotypic abnormalities.

Hu H, Ma Y, Zhang R, Xu J, Hu B, Long Y, Xu L, Yao H, Liang Z. Hu H, et al. Among authors: yao h. Taiwan J Obstet Gynecol. 2020 May;59(3):446-450. doi: 10.1016/j.tjog.2020.03.021. Taiwan J Obstet Gynecol. 2020. PMID: 32416897 Free article.

8

Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9)t(7;9)(p15;p22)pat).

Zhong M, Dong Y, Li M, Yao H. Zhong M, et al. Among authors: yao h. Neurol India. 2014 Mar-Apr;62(2):189-91. doi: 10.4103/0028-3886.132393. Neurol India. 2014. PMID: 24823731 Free article.

9

Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women.

Yao H, Gao Y, Zhao J, Zhang R, Xu H, Hu H, Luo Y, Yuan Y, Fu M, Zhang H, Jiang H, Wang W, Yang H, Wang J, Liang Z, Chen F. Yao H, et al. Sci China Life Sci. 2019 Feb;62(2):215-224. doi: 10.1007/s11427-017-9344-7. Epub 2018 Aug 2. Sci China Life Sci. 2019. PMID: 30076564

10

Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10].

Hu H, Yao H, Dong Y, Long Y, Xu L, Hu B, Xu G, Liang Z. Hu H, et al. Among authors: yao h. Am J Med Genet A. 2014 Aug;164A(8):2048-53. doi: 10.1002/ajmg.a.36560. Epub 2014 Apr 15. Am J Med Genet A. 2014. PMID: 24737738

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