Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
利用快速全基因组测序和自动化表型分析与解读技术诊断重症儿童的遗传疾病
期刊:Science Translational Medicine
影响因子:14.6
doi:10.1126/scitranslmed.aat6177
Clark, Michelle M; Hildreth, Amber; Batalov, Sergey; Ding, Yan; Chowdhury, Shimul; Watkins, Kelly; Ellsworth, Katarzyna; Camp, Brandon; Kint, Cyrielle I; Yacoubian, Calum; Farnaes, Lauge; Bainbridge, Matthew N; Beebe, Curtis; Braun, Joshua J A; Bray, Margaret; Carroll, Jeanne; Cakici, Julie A; Caylor, Sara A; Clarke, Christina; Creed, Mitchell P; Friedman, Jennifer; Frith, Alison; Gain, Richard; Gaughran, Mary; George, Shauna; Gilmer, Sheldon; Gleeson, Joseph; Gore, Jeremy; Grunenwald, Haiying; Hovey, Raymond L; Janes, Marie L; Lin, Kejia; McDonagh, Paul D; McBride, Kyle; Mulrooney, Patrick; Nahas, Shareef; Oh, Daeheon; Oriol, Albert; Puckett, Laura; Rady, Zia; Reese, Martin G; Ryu, Julie; Salz, Lisa; Sanford, Erica; Stewart, Lawrence; Sweeney, Nathaly; Tokita, Mari; Van Der Kraan, Luca; White, Sarah; Wigby, Kristen; Williams, Brett; Wong, Terence; Wright, Meredith S; Yamada, Catherine; Schols, Peter; Reynders, John; Hall, Kevin; Dimmock, David; Veeraraghavan, Narayanan; Defay, Thomas; Kingsmore, Stephen F
