Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

著者: Undiagnosed Diseases Network, Laure Frésard, Craig Smail, Nicole M. Ferraro, Nicole A. Teran, Xin Li, Kevin S. Smith, Devon Bonner, Kristin D. Kernohan, Shruti Marwaha, Zachary Zappala, Brunilda Balliu, Joe R. Davis, Boxiang Liu, Cameron J. Prybol, Jennefer N. Kohler, Diane B. Zastrow, Chloe M. Reuter, Dianna G. Fisk, Megan E. Grove, Jean M. Davidson, Taila Hartley, Ruchi Joshi, Benjamin J. Strober, Sowmithri Utiramerur, Lars Lind, Erik Ingelsson, Alexis Battle, Gill Bejerano, Jonathan A. Bernstein, Euan A. Ashley, Kym M. Boycott, Jason D. Merker, Matthew T. Wheeler, Stephen B. Montgomery - Nature Medicine 2019 被引用: 355