Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

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.

期刊名称Science Translational Medicine
作者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.
卷第11卷
期第489期
印刷ISSN1946-6234
电子ISSN1946-6242
文件大小1307.10KB
发表时间2019-04-24
DOI10.1126/scitranslmed.aat6177

发现好书期刊，享受阅读乐趣

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation