Huang H - Search Results

1

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Zhao S, Xiang J, Fan C, Asan, Shang X, 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, Guo F, Wang Y, Zhong W, Zhu Y, Wang Y, Chen C, Li Y, Huang H, Mao M, Yin Y, Wang J, Yang H, Xu X, Sun J, Peng Z. Zhao S, et al. Among authors: huang s, huang h. Eur J Hum Genet. 2019 Feb;27(2):254-262. doi: 10.1038/s41431-018-0253-9. Epub 2018 Oct 1. Eur J Hum Genet. 2019. PMID: 30275481 Free PMC article.

2

Novel missense variant in TTN cosegregating with familial atrioventricular block.

Liu G, Yang Z, Chen W, Xu J, Mao L, Yu Q, Guo J, Xu H, Liu F, Sun Y, Huang H, Peng Z, Sun J, Li W, Yang P. Liu G, et al. Among authors: huang h. Eur J Med Genet. 2020 Mar;63(3):103752. doi: 10.1016/j.ejmg.2019.103752. Epub 2019 Aug 27. Eur J Med Genet. 2020. PMID: 31470098

3

Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.

Luo H, Chen C, Yang Y, Zhang Y, Yuan Y, Wang W, Wu R, Peng Z, Han Y, Jiang L, Yao R, An X, Zhang W, Le Y, Xiang J, Yi N, Huang H, Li W, Zhang Y, Sun J. Luo H, et al. Among authors: huang h. BMC Med Genomics. 2019 Nov 7;12(1):157. doi: 10.1186/s12920-019-0600-x. BMC Med Genomics. 2019. PMID: 31699113 Free PMC article.

4

Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.

Lei D, Li S, Banerjee S, Zhang H, Li C, Hou S, Chen D, Yan H, Li H, Peng HH, Liu S, Zhang X, Peng Z, Wang J, Yang H, Huang H, Wu J. Lei D, et al. Among authors: huang h. Oncotarget. 2016 Dec 6;7(49):80327-80335. doi: 10.18632/oncotarget.12552. Oncotarget. 2016. PMID: 27741506 Free PMC article.

5

Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.

Wang Y, Jiang D, Zhao Q, Huang H, Zhang X, Cui Y, Liu J, Wu J, Lin K, Chen W, Xiang J, Jin H, Peng Z, Banerjee S. Wang Y, et al. Among authors: huang h. Oncol Lett. 2018 Sep;16(3):3913-3916. doi: 10.3892/ol.2018.9139. Epub 2018 Jul 12. Oncol Lett. 2018. PMID: 30128007 Free PMC article.

6

Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.

Cui Y, Wang Y, Zhang N, He J, Huang H, Liu F, Wei S, Dong Q, Wu J, Lin K, Chen W, Xiang J, Jin H, Peng Z, Zhao Q, Li W, Jiang D, Banerjee S. Cui Y, et al. Among authors: huang h. Oncol Lett. 2019 Mar;17(3):3350-3354. doi: 10.3892/ol.2019.9950. Epub 2019 Jan 21. Oncol Lett. 2019. PMID: 30867769 Free PMC article.

7

A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.

Zhang Y, Chen H, Peng Z, Banerjee S, Li W, Zhao Z, Sun J, Lv J, Huang H, Bai R, Lin K, Li Z. Zhang Y, et al. Among authors: huang h. Biomed Res Int. 2018 Nov 14;2018:1460835. doi: 10.1155/2018/1460835. eCollection 2018. Biomed Res Int. 2018. PMID: 30539002 Free PMC article.

8

[Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry].

Huang H, Shen Y, Gu W, Wang W, Wang Y, Qi M, Shen J, Qiu Z, Yu S, Zhou Z, Chen B, Chen L, Chen Y, Cui H, Du J, Gao Y, Guo Y, Hu C, Hu L, Huang Y, Li P, Li X, Li X, Liu Y, Lu J, Ma D, Ma Y, Peng M, Song F, Sun H, Wang L, Wang D, Wang J, Wang L, Wang Z, Wang Z, Wu J, Wu J, Wu J, Xu Y, Yao H, Yang D, Yang X, Yang Y, Zhang Y, Zhou Y, Zhu B, Zeng S, Peng Z, Huang S. Huang H, et al. Among authors: huang s, huang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):1-8. doi: 10.3760/cma.j.issn.1003-9406.2018.01.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29419850 Chinese.

9

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.

Huang H, Chen Y, Chen H, Ma Y, Chiang PW, Zhong J, Liu X, Asan, Wu J, Su Y, Li X, Deng J, Huang Y, Zhang X, Li Y, Fan N, Wang Y, Tang L, Shen J, Chen M, Zhang X, Te D, Banerjee S, Liu H, Qi M, Yi X. Huang H, et al. Among authors: huang y. PLoS One. 2018 Apr 11;13(4):e0185237. doi: 10.1371/journal.pone.0185237. eCollection 2018. PLoS One. 2018. PMID: 29641573 Free PMC article.

10

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.

Yang L, Banerjee S, Cao J, Bai X, Peng Z, Chen H, Huang H, Han P, Feng S, Yi N, Song X, Wu J. Yang L, et al. Among authors: huang h. Front Genet. 2018 Feb 2;9:23. doi: 10.3389/fgene.2018.00023. eCollection 2018. Front Genet. 2018. PMID: 29456554 Free PMC article.

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