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Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X, Peng Z, Ye Y, Asan, 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, Yin X, Wu L, He J, Huang D, He S, Yan T, Fan X, Zhou Y, Wei X, Zhao S, Cai D, Guo F, Zhang Q, Li Y, Zhang X, Lu H, Huang H, Guo J, Zhu F, Yuan Y, Zhang L, Liu N, Li Z, Jiang H, Zhang Q, Zhang Y, Juhari WKW, Hanafi S, Zhou W, Xiong F, Yang H, Wang J, Zilfalil BA, Qi M, Yang Y, Yin Y, Mao M, Xu X. Shang X, et al. Among authors: qi m. EBioMedicine. 2017 Sep;23:150-159. doi: 10.1016/j.ebiom.2017.08.015. Epub 2017 Aug 17. EBioMedicine. 2017. PMID: 28865746 Free PMC article.
LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.
Zhang L, Zhang Q, Tang Y, Cong P, Ye Y, Chen S, Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Zou J, Liu Y, Chen B, Yan S, Chen Y, Zhou Y, Ding H, Li X, Chen D, Zhong J, Shang X, Liu X, Qi M, Xu X. Zhang L, et al. Among authors: qi m. Hum Mutat. 2019 Dec;40(12):2221-2229. doi: 10.1002/humu.23863. Epub 2019 Sep 11. Hum Mutat. 2019. PMID: 31286593 Free PMC article.
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1) - Procedures prior to genetic testing].
Wang J, Gu W, Huang H, Shen Y, Xiong H, Huang Y, Qi M, An D, Ma D, Deng X, Gao Y, Wang X, Zhou Z, Wu J, Xu X, Zhang W, Kang H, Peng Z, Yu S, Wang L, Huang S. Wang J, et al. Among authors: qi m. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):334-338. doi: 10.3760/cma.j.issn.1003-9406.2020.03.019. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32128754 Chinese.
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: qi m. PLoS One. 2018 Apr 11;13(4):e0185237. doi: 10.1371/journal.pone.0185237. eCollection 2018. PLoS One. 2018. PMID: 29641573 Free PMC article.
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2) - Sample collection, processing and detection].
Zeng X, Xu Z, Huang H, Qu W, Wu J, Wang J, Gao Y, An D, Wang X, Xiong H, Shen Y, Qi M, Deng X, Xu X, Sun L, Peng Z, Gu W, Huang S, Yu S. Zeng X, et al. Among authors: qi m. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):339-344. doi: 10.3760/cma.j.issn.1003-9406.2020.03.020. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32128755 Chinese.
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4) - Report interpretation and genetic counseling].
Huang H, Shen Y, Gu W, Huang Y, Wang X, Gao Y, Xiong H, Zhou Z, Wu J, Ma D, An D, Zhang W, Fu Q, Xiong X, Peng Z, Wang L, Huang S, Qi M. Huang H, et al. Among authors: qi m. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):352-357. doi: 10.3760/cma.j.issn.1003-9406.2020.03.022. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32128757 Chinese.
[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: qi m. 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.
2,795 results