Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Michelle M. Clark, Amber Hildreth, Serge Batalov, Yan Ding, S. Chowdhury, K. Watkins, Katarzyna A Ellsworth, Brandon Camp, C. Kint, C. Yacoubian, L. Farnaes, M. Bainbridge, Curtis Beebe, Joshua J. A. Braun, Margaret Bray, Jeanne Carroll, Julie A. Cakici, Sara A. Caylor, C. Clarke, Mitchell P. Creed, J. Friedman, A. Frith, Richard Gain, Mary Gaughran, Shauna George, S. Gilmer, J. Gleeson, Jeremy Gore, Haiying Grunenwald, Raymond L Hovey, Marie L Janes, Kejia Lin, P. McDonagh, K. McBride, Patrick Mulrooney, S. Nahas, D. Oh, A. Oriol, L. Puckett, Z. Rady, M. G. Reese, J. Ryu, Lisa Salz, E. Sanford, Lawrence Stewart, Nathaly M. Sweeney, M. Tokita, L. Van Der Kraan, S. White, Kristen M Wigby, Brett Williams, Terence Wong, M. Wright, Catherine Yamada, P. Schols, J. Reynders, K. Hall, D. Dimmock, N. Veeraraghavan, Thomas Defay, S. Kingsmore
Science Translational Medicine