Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
About this item
Full title
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 and Han, Lianshu
Publisher
Chicago: American Medical Association
Journal title
Language
English
Formats
Publication information
Publisher
Chicago: American Medical Association
Subjects
More information
Scope and Contents
Contents
Importance Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not been evaluated in a general newborn population. Objective To evaluate the outcomes of applying gene panel sequenci...
Alternative Titles
Full title
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10474521
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10474521
Other Identifiers
ISSN
2574-3805
E-ISSN
2574-3805
DOI
10.1001/jamanetworkopen.2023.31162
