Literature DB >> 31469401

Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations.

Nicola Whiffin1,2,3,4, James S Ware1,2,3,4, Anne O'Donnell-Luria4,5,6.   

Abstract

Year:  2019        PMID: 31469401     DOI: 10.1001/jama.2019.12891

Source DB:  PubMed          Journal:  JAMA        ISSN: 0098-7484            Impact factor:   56.272


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  2 in total

Review 1.  Embracing human genetics: a primer for developmental biologists.

Authors:  Elizabeth J Leslie
Journal:  Development       Date:  2020-07-02       Impact factor: 6.868

2.  A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Authors:  Min Jian; Xiaohong Wang; Yuanyuan Sui; Mingyan Fang; Chenchen Feng; Yingping Huang; Chunhua Liu; Ruidong Guo; Yuanning Guan; Yuxiao Gao; Zhiwei Wang; Shuli Li; Bochen Cheng; Lina Sun; Fenghua Cui; Jia Guo; Ying Zhan; Guohong Zhang; Ling Zheng; Fengxia Su; Wei Xue; Puyi Qian; Shaobo Gao; Jiayu Chen; Lingyao Guan; Haorong Lu; Karsten Kristiansen; Xin Jin; Fang Chen; Yuhuan Zhao; Lennart Hammarström; Xiaojing Jiang; Junnian Liu; Ya Gao
Journal:  Clin Transl Med       Date:  2022-06
  2 in total

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