Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Lee, Hane; Huang, Alden Y.; Wang, Lee-kai; Yoon, Amanda J.; Renteria, Genecee; Eskin, Ascia; Signer, Rebecca H.; Dorrani, Naghmeh; Nieves-Rodriguez, Shirley; Wan, Jijun; Douine, Emilie D.; Woods, Jeremy D.; Dell’Angelica, Esteban C.; Fogel, Brent L.; Martin, Martin G.; Butte, Manish J.; Parker, Neil H.; Wang, Richard T.; Shieh, Perry B.; Wong, Derek A.; Gallant, Natalie; Singh, Kathryn E.; Tavyev Asher, Y. Jane; Sinsheimer, Janet S.; Krakow, Deborah; Loo, Sandra K.; Allard, Patrick; Papp, Jeanette C.; Palmer, Christina G. S.; Martinez-Agosto, Julian A.; Nelson, Stanley F.
- 期刊名称Genetics in Medicine
- 作者Lee, Hane; Huang, Alden Y.; Wang, Lee-kai; Yoon, Amanda J.; Renteria, Genecee; Eskin, Ascia; Signer, Rebecca H.; Dorrani, Naghmeh; Nieves-Rodriguez, Shirley; Wan, Jijun; Douine, Emilie D.; Woods, Jeremy D.; Dell’Angelica, Esteban C.; Fogel, Brent L.; Martin, Martin G.; Butte, Manish J.; Parker, Neil H.; Wang, Richard T.; Shieh, Perry B.; Wong, Derek A.; Gallant, Natalie; Singh, Kathryn E.; Tavyev Asher, Y. Jane; Sinsheimer, Janet S.; Krakow, Deborah; Loo, Sandra K.; Allard, Patrick; Papp, Jeanette C.; Palmer, Christina G. S.; Martinez-Agosto, Julian A.; Nelson, Stanley F.
- 印刷ISSN1098-3600
- 电子ISSN1530-0366
- 文件大小648.69KB
- 发表时间2019-10-14
- DOI10.1038/s41436-019-0672-1