Search Results - "Liang, Qiaowei"

A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder by Kuang, Hanzhe, Li, Yunlong, Wang, Yixuan, Shi, Meizhen, Duan, Ranhui, Xiao, Qiao, She, Haoyuan, Liu, Yingdi, Liang, Qiaowei, Teng, Yanling, Zhou, Miaojin, Liang, Desheng, Li, Zhuo, Wu, Lingqian

“…The INTS11 endonuclease is crucial in modulating gene expression and has only recently been linked to human neurodevelopmental disorders (NDDs). However, how…”
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Effects of Color and Luminance Contrast on Size Perception—Evidence from a Horizontal Parallel Lines Illusion by Zhang, Xiaodan, Qian, Jiehui, Liang, Qiaowei, Huang, Zhengkang

“…The present study investigated a size illusion composed of two horizontal lines that were vertically separated and parallel to each other. When the two lines…”
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REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis by Liu, Mengmeng, Zhong, Yunshan, Liu, Hongqian, Liang, Desheng, Liu, Erhong, Zhang, Yu, Tian, Feng, Liang, Qiaowei, Cram, David S., Wang, Hua, Wu, Lingqian, Yu, Fuli

“…Background Current copy number variation (CNV) identification methods have rapidly become mature. However, the postdetection processes such as variant…”
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Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing by Liang, Qiaowei, Liu, Yingdi, Liu, Yaning, Duan, Ranhui, Meng, Wanli, Zhan, Jiahan, Xia, Jiahui, Mao, Aiping, Liang, Desheng, Wu, Lingqian

“…Fragile X syndrome (FXS) is the most frequent cause of inherited X-linked intellectual disability. Conventional FXS genetic testing methods mainly focus on…”
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Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia by Liang, Qiaowei, He, Jun, Li, Qing, Zhou, Yulin, Liu, Yanqiu, Li, Youqiong, Tang, Lingfang, Huang, Shengwen, Li, Rong, Zeng, Fanqian, Mao, Aiping, Liu, Yinyin, Liang, Desheng, Wu, Lingqian

“…The aim is to evaluate the clinical utility of a long-read sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) in prenatal…”
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A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA) by Liang, Qiaowei, Gu, Wanqian, Chen, Ping, Li, Yuezhen, Liu, Yanqiu, Tian, Mao, Zhou, Qiaomiao, Qi, Hongbo, Zhang, Yuhong, He, Jun, Li, Qing, Tang, Lingfang, Tang, Juan, Teng, Yanling, Zhou, Yulin, Huang, Shengwen, Lu, Zongjie, Xu, Mengnan, Hou, Wei, Huang, Ting, Li, Youqiong, Li, Rong, Hu, Lanping, Li, Shaoying, Guo, Qiwei, Zhuo, Zhaozhen, Mou, Yan, Cram, David S., Wu, Lingqian

“…The aim of the study was to assess the clinical utility of a third-generation sequencing (TGS) approach termed comprehensive analysis of thalassemia alleles…”
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