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Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.
Qian Y, Sun Y, Guo X, Song L, Sun Y, Gao X, Liu B, Xu Y, Chen N, Chen M, Luo Y, Qiao Z, Fan L, Man J, Zhang K, Wang X, Rong T, Wang Z, Liu F, Zhao J, Wei X, Chen M, Peng Z, Peng H, Sun J, Dong M. Qian Y, et al. Among authors: liu b, liu f. J Med Genet. 2023 Oct;60(10):933-938. doi: 10.1136/jmg-2022-109112. Epub 2023 Apr 3. J Med Genet. 2023. PMID: 37012053
Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
Zhou J, Yang Z, Sun J, Liu L, Zhou X, Liu F, Xing Y, Cui S, Xiong S, Liu X, Yang Y, Wei X, Zou G, Wang Z, Wei X, Wang Y, Zhang Y, Yan S, Wu F, Zeng F, Wang J, Duan T, Peng Z, Sun L. Zhou J, et al. Among authors: liu x, liu l, liu f. Genes (Basel). 2021 Mar 6;12(3):376. doi: 10.3390/genes12030376. Genes (Basel). 2021. PMID: 33800913 Free PMC article.
Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.
Zhou G, Zhou M, Zeng F, Zhang N, Sun Y, Qiao Z, Guo X, Zhou S, Yun G, Xie J, Wang X, Liu F, Fan C, Wang Y, Fang Z, Tian Z, Dai W, Sun J, Peng Z, Song L. Zhou G, et al. Among authors: liu f. Medicine (Baltimore). 2022 Mar 11;101(10):e28972. doi: 10.1097/MD.0000000000028972. Medicine (Baltimore). 2022. PMID: 35451387 Free PMC article.
Test development, optimization and validation of a WGS pipeline for genetic disorders.
Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W. Yang Z, et al. Among authors: liu l, liu f. BMC Med Genomics. 2023 Apr 5;16(1):74. doi: 10.1186/s12920-023-01495-x. BMC Med Genomics. 2023. PMID: 37020281 Free PMC article.
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.
Cui H, Gao M, Wang W, Xiao R, Chen G, Zhang Q, Fu H, Zhou Y, Guo B, Dong Y, Shen J, Zhang M, Yue Z, Liu F, Lin D, Gao T, Zhang A, Zhou W, Sun L, Yang S, Wang J, Cui Y, Zhang X. Cui H, et al. Among authors: liu f. J Invest Dermatol. 2013 Nov;133(11):2631-2634. doi: 10.1038/jid.2013.198. Epub 2013 Apr 30. J Invest Dermatol. 2013. PMID: 23633024 Free article. No abstract available.
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