Huang H - Search Results

1

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.

Huang H, Wang Y, Chen H, Chen Y, Wu J, Chiang PW, Fan N, Su Y, Deng J, Chen D, Li Y, Zhang X, Zhang M, Liang S, Banerjee S, Qi M, Liu X. Huang H, et al. Oncotarget. 2017 May 23;8(21):35176-35183. doi: 10.18632/oncotarget.17052. Oncotarget. 2017. PMID: 28456785 Free PMC article.

2

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

Hong N, Chen YH, Xie C, Xu BS, Huang H, Li X, Yang YQ, Huang YP, Deng JL, Qi M, Gu YS. Hong N, et al. Among authors: huang h, huang yp. J Zhejiang Univ Sci B. 2014 Aug;15(8):727-34. doi: 10.1631/jzus.B1300321. J Zhejiang Univ Sci B. 2014. PMID: 25091991 Free PMC article.

3

Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.

Chen M, Wu J, Liang N, Tang L, Chen Y, Chen H, Wei W, Wei T, Huang H, Yi X, Qi M. Chen M, et al. Among authors: huang h. Genomics Proteomics Bioinformatics. 2014 Oct;12(5):221-7. doi: 10.1016/j.gpb.2014.09.003. Epub 2014 Oct 28. Genomics Proteomics Bioinformatics. 2014. PMID: 25462154 Free PMC article.

4

Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.

Liu X, Xiao J, Huang H, Guan L, Zhao K, Xu Q, Zhang X, Pan X, Gu S, Chen Y, Zhang J, Shen Y, Jiang H, Gao X, Kang X, Sheng X, Chen X, Zhao C. Liu X, et al. Among authors: huang h. JAMA Ophthalmol. 2015 Apr;133(4):427-36. doi: 10.1001/jamaophthalmol.2014.5831. JAMA Ophthalmol. 2015. PMID: 25611614

5

A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.

Deng Y, Huang H, Wang Y, Liu Z, Li N, Chen Y, Li X, Li M, Zhou X, Mu D, Zhong J, Wu J, Su Y, Yi X, Zhu J. Deng Y, et al. Among authors: huang h. Gene. 2015 Sep 10;569(1):104-8. doi: 10.1016/j.gene.2015.05.038. Epub 2015 May 16. Gene. 2015. PMID: 25988908

6

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.

Ke Q, He F, Lu L, Yu P, Jiang Y, Weng C, Huang H, Yi X, Qi M. Ke Q, et al. Among authors: huang h. Neuromuscul Disord. 2015 Dec;25(12):955-8. doi: 10.1016/j.nmd.2015.09.006. Epub 2015 Sep 9. Neuromuscul Disord. 2015. PMID: 26433613

7

Achromatopsia caused by novel missense mutations in the CNGA3 gene.

Chen XT, Huang H, Chen YH, Dong LJ, Li XR, Zhang XM. Chen XT, et al. Among authors: huang h. Int J Ophthalmol. 2015 Oct 18;8(5):910-5. doi: 10.3980/j.issn.2222-3959.2015.05.10. eCollection 2015. Int J Ophthalmol. 2015. PMID: 26558200 Free PMC article.

8

Candidate single-nucleotide polymorphisms and cerebral palsy: A case-control study.

He XG, Peng QI, Chen YH, He T, Huang H, Ma ZK, Fan XJ, Luo L, Liu SJ, Lu XM. He XG, et al. Among authors: huang h. Biomed Rep. 2015 Nov;3(6):849-852. doi: 10.3892/br.2015.519. Epub 2015 Sep 25. Biomed Rep. 2015. PMID: 26623029 Free PMC article.

9

A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.

Banerjee S, Dai Y, Liang S, Chen H, Wang Y, Tang L, Wu J, Huang H. Banerjee S, et al. Among authors: huang h. J Clin Neurosci. 2016 Sep;31:182-4. doi: 10.1016/j.jocn.2015.12.034. Epub 2016 May 24. J Clin Neurosci. 2016. PMID: 27234610

10

A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.

Zhang Z, Liang S, Huang H, Wang D, Zhang X, Wu J, Chen H, Wang Y, Rong T, Zhou Y, Banerjee S. Zhang Z, et al. Among authors: huang h. Oncotarget. 2016 Aug 2;7(31):50392-50400. doi: 10.18632/oncotarget.10408. Oncotarget. 2016. PMID: 27391059 Free PMC article.

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