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

Author:

Tong FanORCID,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

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference44 articles.

1. Technical specifications for newborn disease screening 2010 edition. http://www.nhc.gov.cn/fys/s3585/201012/170f29f0c5c54d298155631b4a510df0.shtm. Accessed 1 Dec 2021 (in Chinese).

2. Zhao ZY. Progress in international neonatal disease screening. Chin J Child Health Care. 2012;20:193–5 (in Chinese).

3. Gu XF, Wang ZG, Ye J, Han LS, Qiu WJ. Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening. Ann Acad Med Singap. 2008;37(12 Suppl):107–14.

4. The National Newborn Screening and Global Resource Center. http://genes-r-us.Uthscsa.edu/resources/newborn/overview.htm. Accessed 1 Dec 2021.

5. Advisory committees on heritable disorders in newborns and children. Advisory Recommended uniform screening panel. http://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html. Updated July 2018. Accessed 1 Dec 2021.

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