Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

被引：0
|
作者：
Fan Tong
Jian Wang
Rui Xiao
Bing-Bing Wu
Chao-Chun Zou
Ding-Wen Wu
Hua Wang
Hui Zou
Lian-Shu Han
Lin Yang
Lin Zou
Ming-Yan Hei
Ru-Lai Yang
Tian-Ming Yuan
Wei Wen
Xin-Wen Huang
Xue-Fan Gu
Yan-Ling Yang
Yong-Lan Huang
Yong-Jun Zhang
Yong-Guo Yu
Zheng-Feng Xu
Wen-Hao Zhou
Zheng-Yan Zhao
机构：
[1] Zhejiang University School of Medicine,Children’s Hospital
[2] National Clinical Research Center for Child Health,Shanghai Children’s Medical Center
[3] Shanghai Jiaotong University School of Medicine,National Health Commission Key Laboratory for Birth Defect Research and Prevention
[4] National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention,Xinhua Hospital, Shanghai Institute for Pediatric Research
[5] Screening and Diagnostic R and D Center,Clinical Genetic Center
[6] Center for Molecular Medicine,Children’s Hospital
[7] Children’s Hospital of Fudan University,Neonatal Center, Beijing Children’s Hospital
[8] Maternal and Child Health Hospital of Hunan Province,Affiliated Shenzhen Maternity and Child Healthcare Hospital
[9] Jinan Maternity and Child Care Hospital Affiliated To Shandong First Medical University,Xinhua Hospital, School of Medicine
[10] Shanghai Jiao Tong University School of Medicine,Center of Genetic Medicine
[11] Children’s Hospital of Fudan University,undefined
[12] Shanghai Jiaotong University,undefined
[13] Capital Medical University,undefined
[14] Southern Medical University,undefined
[15] Shanghai Jiaotong University,undefined
[16] Peking University First Hospital,undefined
[17] Guangzhou Women and Children’s Medical Center,undefined
[18] Women’s Hospital of Nanjing Medical University,undefined
[19] Nanjing Maternity and Child Health Care Hospital,undefined
来源：
World Journal of Pediatrics | 2022年 / 18卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：235 / 242
页数：7
相关论文
共 50 条
  • [1] Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts
    Tong, Fan
    Wang, Jian
    Xiao, Rui
    Wu, Bing-Bing
    Zou, Chao-Chun
    Wu, Ding-Wen
    Wang, Hua
    Zou, Hui
    Han, Lian-Shu
    Yang, Lin
    Zou, Lin
    Hei, Ming-Yan
    Yang, Ru-Lai
    Yuan, Tian-Ming
    Wen, Wei
    Huang, Xin-Wen
    Gu, Xue-Fan
    Yang, Yan-Ling
    Huang, Yong-Lan
    Zhang, Yong-Jun
    Yu, Yong-Guo
    Xu, Zheng-Feng
    Zhou, Wen-Hao
    Zhao, Zheng-Yan
    [J]. WORLD JOURNAL OF PEDIATRICS, 2022, 18 (04) : 235 - 242
  • [2] A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
    Ru-Lai Yang
    Gu-Ling Qian
    Ding-Wen Wu
    Jing-Kun Miao
    Xue Yang
    Ben-Qing Wu
    Ya-Qiong Yan
    Hai-Bo Li
    Xin-Mei Mao
    Jun He
    Huan Shen
    Hui Zou
    Shu-Yuan Xue
    Xiao-Ze Li
    Ting-Ting Niu
    Rui Xiao
    Zheng-Yan Zhao
    [J]. World Journal of Pediatrics, 2023, 19 : 663 - 673
  • [3] A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
    Yang, Ru-Lai
    Qian, Gu-Ling
    Wu, Ding-Wen
    Miao, Jing-Kun
    Yang, Xue
    Wu, Ben-Qing
    Yan, Ya-Qiong
    Li, Hai-Bo
    Mao, Xin-Mei
    He, Jun
    Shen, Huan
    Zou, Hui
    Xue, Shu-Yuan
    Li, Xiao-Ze
    Niu, Ting-Ting
    Xiao, Rui
    Zhao, Zheng-Yan
    [J]. WORLD JOURNAL OF PEDIATRICS, 2023, 19 (07) : 663 - 673
  • [4] Next generation sequencing for newborn screening: are we there yet?
    Friedman, Eitan
    [J]. GENETICS RESEARCH, 2015, 97 : e17
  • [5] Challenges of using next generation sequencing in newborn screening
    Reinstein, Eyal
    [J]. GENETICS RESEARCH, 2015, 97 : e21
  • [6] The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases
    Xue Zhang
    Qian Chen
    Junnan Li
    Xin Luo
    Jianyun Luo
    Jian Li
    Ziye Zeng
    Yan Wu
    Hua Zhang
    Yanling Dong
    [J]. Human Genomics, 18
  • [7] The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases
    Zhang, Xue
    Chen, Qian
    Li, Junnan
    Luo, Xin
    Luo, Jianyun
    Li, Jian
    Zeng, Ziye
    Wu, Yan
    Zhang, Hua
    Dong, Yanling
    [J]. HUMAN GENOMICS, 2024, 18 (01)
  • [8] Targeted next generation sequencing for newborn screening of Menkes disease
    Parad, Richard B.
    Kaler, Stephen G.
    Mauceli, Evan
    Sokolsky, Tanya
    Yi, Ling
    Bhattacharjee, Arindam
    [J]. MOLECULAR GENETICS AND METABOLISM REPORTS, 2020, 24
  • [9] Refinement of newborn screening for cystic fibrosis with next generation sequencing
    Rock, Michael J. J.
    Baker, Mei
    Antos, Nicholas
    Farrell, Philip M. M.
    [J]. PEDIATRIC PULMONOLOGY, 2023, 58 (03) : 778 - 787
  • [10] Large Scale Next Generation Sequencing and Newborn Screening: Are We Ready?
    Phornphutkul, Chanika
    Padbury, James
    [J]. JOURNAL OF PEDIATRICS, 2019, 209 : 9 - 10
12345