Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China

doi: 10.1016/j.jgg.2021.08.008

• Chanjuan Hao ^a,b,c,d     , 
• Ruolan Guo ^a,b,c,d , 
• Xuyun Hu ^a,b,c,d , 
• Zhan Qi ^a,b,c,d , 
• Qi Guo ^a,b,c,d , 
• Xuanshi Liu ^a,b,c,d , 
• Yuanhu Liu ^a,b,c,d , 
• Yanhua Sun ^e , 
• Xiaofen Zhang ^e , 
• Feng Jin ^e , 
• Xiujie Wu ^e , 
• Ren Cai ^f , 
• Dingyuan Zeng ^f , 
• Xijiang Hu ^g , 
• Xiaohua Wang ^h , 
• Xiaoping Ji ^h , 
• Wenjie Li ⁱ , 
• Quansheng Xing ⁱ , 
• Lanfang Mu ^j , 
• Xiulian Jiang ^j , 
• Xue Yang ^k , 
• Weimin Yang ^k , 
• Yan Zhang ^l , 
• Qianli Yin ^l , 
• Xin Ni ^a,b,c,d     , 
• Wei Li ^a,b,c,d    

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  a Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing 100045, China;

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  b MOE Key Laboratory of Major Diseases in Children, Beijing 100045, China;

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  c Rare Disease Center, National Center for Children's Health, Beijing 100045, China;

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  d Beijing Children's Hospital, Capital Medical University, Beijing 100045, China;

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  e Shunyi Women and Children's Healthcare Hospital of Beijing Children's Hospital, Beijing 101300, China;

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  f Liuzhou Maternal and Child Healthcare Hospital, Liuzhou, Guangxi 545001, China;

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  g Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China;

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  h Inner Mongolia Maternity and Child Healthcare Hospital, Hohhot, Inner Mongolia Autonomous Region 010020, China;

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  i Qingdao Women and Children's Hospital, Qingdao, Shandong 266012, China;

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  j Qinghai Maternal and Child Health Hospital, Xining, Qinghai 810007, China;

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  k Guiyang Maternity and Child Healthcare Hospital, Guiyang, Guizhou 550003, China;

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  l Urumqi First People's Hospital, Urumqi, Xinjiang 830011, China