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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

  • Beryl B. Cummings
  • , Jamie L. Marshall
  • , Taru Tukiainen
  • , Monkol Lek
  • , Sandra Donkervoort
  • , A. Reghan Foley
  • , Veronique Bolduc
  • , Leigh B. Waddell
  • , Sarah A. Sandaradura
  • , Gina L. O'Grady
  • , Elicia Estrella
  • , Hemakumar M. Reddy
  • , Fengmei Zhao
  • , Ben Weisburd
  • , Konrad J. Karczewski
  • , Anne H. O'Donnell-Luria
  • , Daniel Birnbaum
  • , Anna Sarkozy
  • , Ying Hu
  • , Hernan Gonorazky
    • Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark Davis, Nigel G. Laing, Ana Topf, Peter B. Kang, Alan H. Beggs, Kathryn N. North, Volker Straub, James J. Dowling, Francesco Muntoni, Nigel F. Clarke, Sandra T. Cooper, Carsten G. Bönnemann, Daniel G. MacArthur, Kristin G. Ardlie, Gad Getz, Ellen T. Gelfand, Ayellet V. Segrè, François Aguet, Timothy J. Sullivan, Xiao Gang Li, Jared L. Nedzel, Casandra A. Trowbridge, Kane Hadley, Katherine H. Huang, Michael S. Noble, Duyen T. Nguyen, Andrew B. Nobel, Fred A. Wright, Andrey A. Shabalin, John J. Palowitch, Yi Hui Zhou, Emmanouil T. Dermitzakis, Mark I. McCarthy, Anthony J. Payne, Tuuli Lappalainen, Stephane Castel, Sarah Kim-Hellmuth, Pejman Mohammadi, Alexis Battle, Princy Parsana, Sara Mostafavi, Andrew Brown, Halit Ongen, Olivier Delaneau, Nikolaos Panousis, Cedric Howald, Martijn Van De Bunt, Roderic Guigo, Jean Monlong, Ferran Reverter, Diego Garrido, Manuel Munoz, Gireesh Bogu, Reza Sodaei, Panagiotis Papasaikas, Anne W. Ndungu, Stephen B. Montgomery, Xin Li, Laure Fresard, Joe R. Davis, Emily K. Tsang, Zachary Zappala, Nathan S. Abell, Michael J. Gloudemans, Boxiang Liu, Farhan N. Damani, Ashis Saha, Yungil Kim, Benjamin J. Strober, Yuan He, Matthew Stephens, Jonathan K. Pritchard, Xiaoquan Wen, Sarah Urbut, Nancy J. Cox, Dan L. Nicolae, Eric R. Gamazon, Hae Kyung Im, Christopher D. Brown, Barbara E. Engelhardt, Yo Son Park, Brian Jo, Ian C. McDowell, Ariel Gewirtz, Genna Gliner, Don Conrad, Ira Hall, Colby Chiang, Alexandra Scott, Chiara Sabatti, Eleazar Eskin, Christine Peterson, Farhad Hormozdiari, Eun Yong Kang, Serghei Mangul, Buhm Han, Jae Hoon Sul, Andrew P. Feinberg, Lindsay F. Rizzardi, Kasper D. Hansen, Peter Hickey, Joshua Akey, Manolis Kellis, Jin Billy Li, Michael Snyder, Hua Tang, Lihua Jiang, Shin Lin, Barbara E. Stranger, Marian Fernando, Meritxell Oliva, John Stamatoyannopoulos, Rajinder Kaul, Jessica Halow, Richard Sandstrom, Eric Haugen, Audra Johnson, Kristen Lee, Daniel Bates, Morgan Diegel, Brandon L. Pierce, Lin Chen, Muhammad G. Kibriya, Farzana Jasmine, Jennifer Doherty, Kathryn Demanelis, Kevin S. Smith, Qin Li, Rui Zhang, Concepcion R. Nierras, Helen M. Moore, Abhi Rao, Ping Guan, Jimmie B. Vaught, Philip A. Branton, Latarsha J. Carithers, Simona Volpi, Jeffery P. Struewing, Casey G. Martin, Lockhart C. Nicole, Susan E. Koester, Anjene M. Addington, A. Roger Little, William F. Leinweber, Jeffrey A. Thomas, Gene Kopen, Alisa McDonald, Bernadette Mestichelli, Saboor Shad, John T. Lonsdale, Michael Salvatore, Richard Hasz, Gary Walters, Mark Johnson, Michael Washington, Lori E. Brigham, Christopher Johns, Joseph Wheeler, Brian Roe, Marcus Hunter, Kevin Myer, Barbara A. Foster, Michael T. Moser, Ellen Karasik, Bryan M. Gillard, Rachna Kumar, Jason Bridge, Mark Miklos, Scott D. Jewell, Daniel C. Rohrer, Dana Valley, Robert G. Montroy, Deborah C. Mash, David A. Davis, Anita H. Undale, Anna M. Smith, David E. Tabor, Nancy V. Roche, Jeffrey A. McLean, Negin Vatanian, Karna L. Robinson, Leslie Sobin, Mary E. Barcus, Kimberly M. Valentino, Liqun Qi, Stephen Hunter, Pushpa Hariharan, Shilpi Singh, Ki Sung Um, Takunda Matose, Maria M. Tomadzewski, Laura A. Siminoff, Heather M. Traino, Maghboeba Mosavel, Laura K. Barker, Daniel R. Zerbino, Thomas Juettmann, Kieron Taylor, Magali Ruffier, Dan Sheppard, Steven Trevanion, Paul Flicek, W. James Kent, Kate R. Rosenbloom, Maximilian Haeussler, Christopher M. Lee, Benedict Paten, John Vivan, Jingchun Zhu, Mary Goldman, Brian Craft, Gen Li, Pedro G. Ferreira, Esti Yeger-Lotem, Matthew T. Maurano, Ruth Barshir, Omer Basha, Hualin S. Xi, Jie Quan, Michael Sammeth, Judith B. Zaugg

Research output: Contribution to journal › Article › peer-review

579   Link opens in a new tab Citations (Scopus)

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