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9 results for Fan,+Chunna

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ArticlesPeer ReviewedFull Text
Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newb...
Author / Creator:Tan, Minyi ; Liu, Xiulian ; Zhang, Yinhong ; Yin, Yifan ; Chen, Ting ; Li, Yulin ; Feng, Lulu ; Zhu, Bo ; Xu, Chunjing ; Tang, Chengfang ; Sun, Meng ; Jia, Liyun ; Jin, Weiwei ; Fan, Chunna ; Huang, Hui ; Wang, Xiaohua ; Feng, Jizhen ; Zou, Hui ; Han, Lianshu ; Miao, Jingkun ; Zhu, Baosheng ; Huang, Cidan ; Huang, Yonglan
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-10, Vol.19 (10), p.e0310517
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NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study
Author / Creator: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 ; Shanhuo, Yan ; Chen, Yajun ; Ding Hongmei ; Shang Xuan ; Xu, Xiangmin ; Sun, Jun ; Peng Zhiyu
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.194-204
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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples
Author / Creator: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 ; Shanhuo Yan ; 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
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-02, Vol.27 (2), p.254-262
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AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs
Author / Creator:Fan, Chunna ; Wang, Zhonghua ; Sun, Yan ; Sun, Jun ; Liu, Xi ; Kang, Licheng ; Xu, Yingshuo ; Yang, Manqiu ; Dai, Wentao ; Song, Lijie ; Wei, Xiaoming ; Xiang, Jiale ; Huang, Hui ; Zhou, Meizhen ; Zeng, Fanwei ; Huang, Lin ; Xu, Zhengfeng ; Peng, Zhiyu
Publisher:London: BioMed Central Ltd
Journal title:BMC genomics, 2021-10, Vol.22 (1), p.1-12, Article 721
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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders
Author / Creator:Sun, Yan ; Liu, Fengxia ; Fan, Chunna ; Wang, Yaoshen ; Song, Lijie ; Fang, Zhonghai ; Han, Rui ; Wang, Zhonghua ; Wang, Xiaodan ; Yang, Ziying ; Xu, Zhenpeng ; Peng, Jiguang ; Shi, Chaonan ; Zhang, Hongyun ; Dong, Wei ; Huang, Hui ; Li, Yun ; Le, Yanqun ; Sun, Jun ; Peng, Zhiyu
Publisher:England: BioMed Central
Journal title:BMC medical genomics, 2021-04, Vol.14 (1), p.102-13, Article 102
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Test development, optimization and validation of a WGS pipeline for genetic disorders
Author / Creator:Yang, Ziying ; Yang, Xu ; Sun, Yan ; Wang, Yaoshen ; Song, Lijie ; Qiao, Zhihong ; Fang, Zhonghai ; Wang, Zhonghua ; Liu, Lipei ; Chen, Yunmei ; Yan, Saiying ; Guo, Xueqin ; Zhang, Junqing ; Fan, Chunna ; Liu, Fengxia ; Peng, Zhiyu ; Peng, Huanhuan ; Sun, Jun ; Chen, Wei
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2023-04, Vol.16 (1), p.74-11, Article 74
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Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
Author / Creator:Chen, Ting ; Fan, Chunna ; Huang, Yonglan ; Feng, Jizhen ; Zhang, Yinhong ; Miao, Jingkun ; Wang, Xiaohua ; Li, Yulin ; Huang, Cidan ; Jin, Weiwei ; Tang, Chengfang ; Feng, Lulu ; Yin, Yifan ; Zhu, Bo ; Sun, Meng ; Liu, Xiulian ; Xiang, Jiale ; Tan, Minyi ; Jia, Liyun ; Chen, Lei ; Huang, Hui ; Peng, Huanhuan ; Sun, Xin ; Gu, Xuefan ; Peng, Zhiyu ; Zhu, Baosheng ; Zou, Hui ; Han, Lianshu
Publisher:Chicago: American Medical Association
Journal title:JAMA network open, 2023-09, Vol.6 (9), p.e2331162
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Performance characterization of PCR-free whole genome sequencing for clinical diagnosis
Author / Creator:Zhang, Ningzhi ; Zhou, Meizhen ; Zeng, Fanwe ; Wang, Xiaodan ; Liu, Fengxia ; Qiao, Zhihong ; Fan, Chunna ; Wang, Yaoshen ; Fang, Zhonghai ; Dai, Wentao ; Xiang, Jiale ; Sun, Jun ; Peng, Zhiyu ; Song, Lijie ; Sun, Yan
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2020-06
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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders
Author / Creator:Sun, Yan ; Liu, Fengxia ; Fan, Chunna ; Wang, Yaoshe ; Song, Lijie ; Fang, Zhonghai ; Han, Rui ; Wang, Zhonghua ; Wang, Xiaodan ; Yang, Ziying ; Xu, Zhenpeng ; Peng, Jiguang ; Shi, Chaonan ; Zhang, Hongyun ; Dong, Wei ; Huang, Hui ; Li, Yun ; Le, Yanqun ; Sun, Jun ; Peng, Zhiyu
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2020-04
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Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newb...

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NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study

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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

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AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs

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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

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Test development, optimization and validation of a WGS pipeline for genetic disorders

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Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening

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Performance characterization of PCR-free whole genome sequencing for clinical diagnosis

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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

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