Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population
对 553 名未确诊神经发育异常患者的基因组分析显示，在一个近交群体中，隐性致病变异携带者的比例很高。
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-020-58101-8
Lee, Youngha; Park, Soojin; Lee, Jin Sook; Kim, Soo Yeon; Cho, Jaeso; Yoo, Yongjin; Lee, Sangmoon; Yoo, Taekyeong; Lee, Moses; Seo, Jieun; Lee, Jeongeun; Kneissl, Jana; Lee, Jean; Jeon, Hyoungseok; Jeon, Eun Young; Hong, Sung Eun; Kim, Eunha; Kim, Hyuna; Kim, Woo Joong; Kim, Jon Soo; Ko, Jung Min; Cho, Anna; Lim, Byung Chan; Kim, Won Seop; Choi, Murim; Chae, Jong-Hee
