NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study
Zhao, Sumin, Wang, Wanyang, Wang, Yaoshen, Han, Rui, Fan, Chunna, Ni, Peixiang, Guo, Fengyu, Zeng, Fanwei, Yang, Qiaona, Yang, Yun, Sun, Yan, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Huang, Shuodan, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Ding, Hongmei, Shang, Xuan, Xu, Xiangmin, Sun, Jun, Peng, Zhiyu
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
Shang, Xuan, Peng, Zhiyu, Ye, Yuhua, Asan, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Huang, Shuodan, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Ding, Hongmei, Yin, Xiaolin, Wu, Liusong, He, Jing, Huang, Dongai, He, Sheng, Yan, Tizhen, Fan, Xin, Zhou, Yuehong, Wei, Xiaofeng, Zhao, Sumin, Cai, Decheng, Guo, Fengyu, Zhang, Qianqian, Li, Yun, Zhang, Xuelian, Lu, Haorong, Huang, Huajie, Guo, Junfu, Zhu, Fei, Yuan, Yuan, Zhang, Li, Liu, Na, Li, Zhiming, Jiang, Hui, Zhang, Qiang, Zhang, Yijia, Juhari, Wan Khairunnisa Wan, Hanafi, Sarifah, Zhou, Wanjun, Xiong, Fu, Yang, Huanming, Wang, Jian, Zilfalil, Bin Alwi, Qi, Ming, Yang, Yaping, Yin, Ye, Mao, Mao, Xu, Xiangmin
Published in EBioMedicine (01.09.2017)
Published in EBioMedicine (01.09.2017)
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Journal Article
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples
Zhao, Sumin, Xiang, Jiale, Fan, Chunna, Asan, Shang, Xuan, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Huang, Shuodan, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Ding, Hongmei, Guo, Fengyu, Wang, Yaoshen, Zhong, Wenwei, Zhu, Yaping, Wang, Yaling, Chen, Chao, Li, Yun, Huang, Hui, Mao, Mao, Yin, Ye, Wang, Jian, Yang, Huanming, Xu, Xiangmin, Sun, Jun, Peng, Zhiyu
Published in European journal of human genetics : EJHG (01.02.2019)
Published in European journal of human genetics : EJHG (01.02.2019)
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LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies
Zhang, Li, Zhang, Qianqian, Tang, Yaohua, Cong, Peikuan, Ye, Yuhua, Chen, Shiping, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Zou, Jie, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Zhou, Yuehong, Ding, Hongmei, Li, Xiarong, Chen, Dianyu, Zhong, Jianmei, Shang, Xuan, Liu, Xuanzhu, Qi, Ming, Xu, Xiangmin
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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A Cell‐free DNA Barcode‐Enabled Single‐Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β‐Thalassemia
Yang, Xingkun, Zhou, Qinghua, Zhou, Wanjun, Zhong, Mei, Guo, Xiaoling, Wang, Xiaofeng, Fan, Xin, Yan, Shanhuo, Li, Liyan, Lai, Yunli, Wang, Yongli, Huang, Jin, Ye, Yuhua, Zeng, Huaping, Chuan, Jun, Du, Yuanping, Ma, Chouxian, Li, Peining, Song, Zhuo, Xu, Xiangmin
Published in Advanced science (05.06.2019)
Published in Advanced science (05.06.2019)
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Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR
Kong, Xiangdong, Li, Lin, Sun, Lei, Fu, Kepeng, Long, Ju, Weng, Xunjin, Ye, Xuehe, Liu, Xinxiong, Wang, Bo, Yan, Shanhuo, Ye, Haiming, Fan, Zuqian
Published in PloS one (13.03.2014)
Published in PloS one (13.03.2014)
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Detection of three common α-thalassemia in non-deletion types and six common thalassemia in deletion types by QF-PCR
Long, Ju, Ye, Xuehe, Lao, Kegan, Pang, Wanrong, Weng, Xunjin, Fu, Kepeng, Yan, Shanhuo, Sun, Lei
Published in Clinical biochemistry (01.12.2013)
Published in Clinical biochemistry (01.12.2013)
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Rapid detection of Down's syndrome using quantitative real-time PCR (qPCR) targeting segmental duplications on chromosomes 21 and 11
Sun, Lei, Fan, Zuqian, Weng, Xunjin, Ye, Xuehe, Long, Ju, Fu, Kepeng, Yan, Shanhuo, Wang, Bo, Zhuo, Yongguang, Liu, Xinxing, Lao, Kegan
Published in Gene (01.12.2014)
Published in Gene (01.12.2014)
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Diagnosis of a Family with the Novel -α(21.9) Thalassemia Deletion
Long, Ju, Pang, Wanrong, Sun, Lei, Lao, Kegan, Weng, Xunjin, Ye, Xuehe, Wu, Suping, Song, Chuanlu, Wei, Xiaoying, Yan, Shanhuo
Published in Hemoglobin (01.01.2015)
Published in Hemoglobin (01.01.2015)
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LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies
Zhang, Li, Zhang, Qianqian, Tang, Yaohua, Cong, Peikuan, Ye, Yuhua, Chen, Shiping, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Zou, Jie, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Zhou, Yuehong, Ding, Hongmei, Li, Xiarong, Chen, Dianyu, Zhong, Jianmei, Shang, Xuan, Liu, Xuanzhu, Qi, Ming, Xu, Xiangmin
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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Journal Article
Diagnosis of a Family with the Novel -α21.9 Thalassemia Deletion
Long, Ju, Pang, Wanrong, Sun, Lei, Lao, Kegan, Weng, Xunjin, Ye, Xuehe, Wu, Suping, Song, Chuanlu, Wei, Xiaoying, Yan, Shanhuo
Published in Hemoglobin (02.11.2015)
Published in Hemoglobin (02.11.2015)
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Journal Article
Diagnosis of a Family with the Novel –α 21.9 Thalassemia Deletion
Long, Ju, Pang, Wanrong, Sun, Lei, Lao, Kegan, Weng, Xunjin, Ye, Xuehe, Wu, Suping, Song, Chuanlu, Wei, Xiaoying, Yan, Shanhuo
Published in Hemoglobin (02.11.2015)
Published in Hemoglobin (02.11.2015)
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