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

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 e...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474521/
https://www.ncbi.nlm.nih.gov/pubmed/37656460
http://dx.doi.org/10.1001/jamanetworkopen.2023.31162

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474521/
https://www.ncbi.nlm.nih.gov/pubmed/37656460
http://dx.doi.org/10.1001/jamanetworkopen.2023.31162

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