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
  • [41] TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan
    Manabu Wakamatsu
    Daiei Kojima
    Hideki Muramatsu
    Yusuke Okuno
    Shinsuke Kataoka
    Fumiko Nakamura
    Yoshimi Sakai
    Ikuya Tsuge
    Tsuyoshi Ito
    Kazuto Ueda
    Akiko Saito
    Eiji Morihana
    Yasuhiko Ito
    Naoki Ohashi
    Makito Tanaka
    Taihei Tanaka
    Seiji Kojima
    Yoko Nakajima
    Tetsuya Ito
    Yoshiyuki Takahashi
    [J]. Journal of Clinical Immunology, 2022, 42 : 1696 - 1707
  • [42] Next generation sequencing panel screening of 320 patients with clinically unclassified systemic autoinflammatory diseases
    Schnappauf, Oskar
    Wang, Hongying
    Deuitch, Natalie
    Moura, Natalia Sampaio
    Rosenzweig, Sofia
    Cardona, Daniela Ospina
    Hoffmann, Patrycja
    Stone, Deborah
    Ombrello, Amanda
    Kastner, Daniel
    Aksentijevich, Ivona
    [J]. MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S276 - S277
  • [43] CONSIDERATIONS IN NEXT-GENERATION SEQUENCING APPLICATIONS IN NEWBORN SCREENING: SUPPORTING, SUPPLEMENTING, AND EXPANDING CURRENT APPROACHES
    Hofherr, Sean
    Viall, Sarah
    Seprish, Mary Beth
    Cusmano-Ozog, Kristina
    [J]. MOLECULAR GENETICS AND METABOLISM, 2016, 117 (03) : 229 - 230
  • [44] Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles
    Fiorentino, Francesco
    Bono, Sara
    Biricik, Anil
    Nuccitelli, Andrea
    Cotroneo, Ettore
    Cottone, Giuliano
    Kokocinski, Felix
    Michel, Claude-Edouard
    Minasi, Maria Giulia
    Greco, Ermanno
    [J]. HUMAN REPRODUCTION, 2014, 29 (12) : 2802 - 2813
  • [45] Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study
    Yang, Yuqi
    Wang, Leilei
    Wang, Benjing
    Liu, Shuang
    Yu, Bin
    Wang, Ting
    [J]. FRONTIERS IN GENETICS, 2019, 10
  • [46] Application of next-generation sequencing in thalassemia screening:A systematic review and meta-analysis
    Xingyi Fang
    Yi Gong
    Yanlin Ma
    Yuanhua Huang
    [J]. Asian Pacific Journal of Tropical Medicine, 2023, (02) : 51 - 57
  • [47] Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
    Veldman, Abigail
    Kiewiet, Mensiena B. G.
    Heiner-Fokkema, Margaretha Rebecca
    Nelen, Marcel R.
    Sinke, Richard J.
    Sikkema-Raddatz, Birgit
    Voorhoeve, Els
    Westra, Dineke
    Dolle, Martijn E. T.
    Schielen, Peter C. J., I
    van Spronsen, Francjan J.
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2022, 8 (01)
  • [48] Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
    Fleige, Tobias
    Burggraf, Siegfried
    Czibere, Ludwig
    Haring, Julia
    Glueck, Birgit
    Keitel, Lisa Marie
    Landt, Olfert
    Harms, Erik
    Hohenfellner, Katharina
    Durner, Juergen
    Roeschinger, Wulf
    Becker, Marc
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (02) : 193 - 201
  • [49] NOVEL USE OF NEXT-GENERATION SEQUENCING FOR DIAGNOSIS AND DETECTION OF RARE CF VARIANTS VIA NEWBORN SCREENING
    Kirschner, La Pean A.
    Antos, N. J.
    Mochal, S.
    Moon, J.
    Baker, M.
    [J]. PEDIATRIC PULMONOLOGY, 2017, 52 : S272 - S272
  • [50] Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates
    Lee, Hyunjoo
    Lim, Joohee
    Shin, Jeong Eun
    Eun, Ho Sun
    Park, Min Soo
    Park, Kook In
    Namgung, Ran
    Lee, Jin Sung
    [J]. YONSEI MEDICAL JOURNAL, 2019, 60 (11) : 1061 - 1066
12345