An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

Autor: David Dimmock, Cinnamon S. Bloss, Yan Ding, Kiely N. James, Katarzyna A. Ellsworth, Narayanan Veeraraghavan, Matthew N. Bainbridge, Amy S. Kimball, Jaime Barea, Christina Clarke, Jerica Lenberg, Shareef Nahas, Shimul Chowdhury, Erica Sanford, Patrick Mulrooney, Nathaly M. Sweeney, Sergey Batalov, Lauge Farnaes, Jennie Le, Cynthia Cheung, Mary Gaughran, Leila Schwanemann, Daniken Orendain, Maria Ortiz-Arechiga, Charlotte A. Hobbs, Marva Evans, Kelly Watkins, Marilyn C. Jones, Joshua J.A. Braun, Meredith S. Wright, Terence C. Wong, Carlos Diaz, Mari Tokita, Miguel Del Campo, Brian Lane, Stephen F. Kingsmore, Christian Hansen, Lisa Salz, Michelle M. Clark, Nicole G. Coufal, Casey Cohenmeyer, Joe Gleeson, Seema Rego, Kristen Wigby, Jennifer Friedman, Zaira Bezares, Mark Speziale, Sara A. Caylor, Lance Prince, Richard S. Song, Jose Honold, Albert Oriol, Catherine Yamada, Annette Feigenbaum, Lucitia Van Der Kraan, Sandra Leibel, Denise Suttner, Dana Mashburn, Laurel Moyer, Julie A. Cakici, Lynne M. Bird, Charles Sauer, Daeheon Oh, Iris Reyes, Gail Knight, Michele Feddock, Jeanne Carroll

Publikováno v: Am J Hum Genet

The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing (rWGS) or rapid whole-exome sequencing (rWES) in infants with diseases of unknown etiology in inte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97bc93cbabedae90a0f6c0e3274fcc48
https://pubmed.ncbi.nlm.nih.gov/33157007

Contributors

Autor: Soraya Abbasi, S. Lee Adamson, Anne M. Ades, N. Scott Adzick, Kurt H. Albertine, Steven M. Altschuler, Ruben E. Alvaro, Russell V. Anthony, Shankari Arulkumaran, Richard L. Auten, Mary Ellen Avery, Ellis D. Avner, H. Scott Baldwin, Philip L. Ballard, Eduardo Bancalari, David J.P. Barker, Damien Bates, Frederick C. Battaglia, †Karl Bauer, Gary K. Beauchamp, Corinne Benchimol, Laura Bennet, Phillip R. Bennett, Robert A. Berg, Melvin Berger, Monica Bhatia, Vinod K. Bhutani, Stan R. Blecher, Arlin B. Blood, David L. Bolender, Rada Boskovic, Robert D.H. Boyd, Robert A. Brace, Eileen D. Brewer, Delma L. Broussard, Laura D. Brown, Douglas G. Burrin, Bridgette M.P. Byrne, Anne Grete Byskov, Mitchell S. Cairo, Barbara Cannon, Michael Caplan, Luke C. Carey, Susan E. Carlson, David P. Carlton, William J. Cashore, Yang Chai, Carol L. Cheatham, Sylvain Chemtob, Robert L. Chevalier, Sadhana Chheda, Robert D. Christensen, David H. Chu, Robert Ryan Clancy, M. Thomas Clandinin, David A. Clark, Jane Cleary-Goldman, Ronald I. Clyman, Susan S. Cohen, John Colombo, Howard E. Corey, Robert B. Cotton, Beverly J. Cowart, Richard M. Cowett, Leona Cuttler, Mary E. D’Alton, Enrico Danzer, Elmer S. David, Diva D. De León, Maria Delivoria-Papadopoulos, Raye-Ann Odegaard deRegnier, Thomas G. Diacovo, George A. Diaz, Chris J. Dickinson, John P. Dormans, Kerry McGarr Empey, Offer Erez, Robert P. Erickson, Bulent Erol, Mohamed Abdelmonem Fahim, Leonard G. Feld, Miguel Feldman, Ronaldo P. Ferraris, Douglas G. Field, Delbert A. Fisher, Jennifer Frances, Hans-Georg Frank, Philippe S. Friedlich, Aaron L. Friedman, Joshua R. Friedman, Marianne Garland, Michael K. Georgieff, Peter D. Gluckman, Armond S. Goldman, Roberto Ariel Gomez, Francesca Gotsch, Denis M. Grant, Lucy R. Green, Adda Grimberg, Justin C. Grindley, Ian Gross, M. Brad Guffey, Jean-Pierre Guignard, Alistair Jan Gunn, Gabriel G. Haddad, J. Nathan Hagstrom, J. Nina Ham, Simon J. Hambidge, Margit Hamosh, Mark A. Hanson, Richard Harding, Olga T. Hardy, Mary Catherine Harris, Musa A. Haxhiu, William W. Hay, null Jr., William C. Heird, Emilio Herrera, Harry R. Hill, A. Craig Hillemeier, Kurt Hirschhorn, Steven B. Hoath, Stuart B. Hooper, Tracy E. Hunley, Shahid M. Husain, Susan M. Hutson, Machiko Ikegami, Terrie E. Inder, John Lynn Jefferies, Alan H. Jobe, Lois H. Johnson, Sonja E. Johnson, Michael V. Johnston, Richard B. Johnston, Deborah P. Jones, Peter Lloyd Jones, Rebecca L. Jones, Pedro A. Jose, Satish C. Kalhan, Suhas G. Kallapur, Stanley Kaplan, Heidi Eigenrauch Karpen, Saul J. Karpen, Sudha Kashyap, Frederick J. Kaskel, Lorraine E. Levitt Katz, Susan E. Keeney, Omar S. Khwaja, Laurie E. Kilpatrick, David Winston Kimberlin, John P. Kinsella, Jay K. Kolls, Valentina Kon, Ernest A. Kopecky, Gideon Koren, Nancy F. Krebs, Thomas J. Kulik, Juhi Kumar, Juan Pedro Kusanovic, Jessica Katz Kutikov, Timothy R. La Pine, Miguel Angel Lasunción, Tucker W. LeBien, Mary M. Lee, Matthew K. Lee, Fred Levine, Chris A. Liacouras, †Michael A. Linshaw, Steven Lobritto, Cynthia A. Loomis, Maria Luisa S. Sequeira Lopez, John M. Lorenz, Felicia M. Low, Ralph A. Lugo, Akhil Maheshwari, Shadi N. Malaeb, Carlos B. Mantilla, M. Michele Mariscalco, László Maródi, Karel Maršál, Richard J. Martin, Dwight E. Matthews, Alan N. Mayer, Jane E. McGowan, James L. McManaman, Tim C. McQuinn, Huseyin Mehmet, Julie A. Mennella, Martha J. Miller, Helen A. Mintz-Hittner, Paul Monagle, Iona M. Monteiro, Jacopo P. Mortola, Glen E. Mott, Maka Mshvildadze, M. Zulficar Mughal, Susan E. Mulroney, Upender K. Munshi, Leslie Myatt, Margaret Myers, Ran Namgung, Sumana Narasimhan, Heinz Nau, Jan Nedergaard, Josef Neu, Margaret Cobb Neville, Heber C. Nielsen, Lee Niswander, Lawrence M. Nogee, Shahab Noori, Victoria Fay Norwood, Luigi D. Notarangelo, Edward S. Ogata, Robin Kjerstin Ohls, Taher I. Omari, James F. Padbury, Mark R. Palmert, Prabhu S. Parimi, Elvira Parravicini, Gilberto R. Pereira, Jeffrey M. Perlman, Anthony F. Philipps, Arthur S. Pickoff, Grisha Pirianov, David Pleasure, Jeanette Pleasure, Sabine Luise Plonait, Daniel H. Polk, Scott L. Pomeroy, Fred Possmayer, Martin Post, Brandon S. Poterjoy, Gordon G. Power, Jorge A. Prada, Lawrence S. (Lance) Prince, Guy Putet, Theodore J. Pysher, Marlene Rabinovitch, Scott H. Randell, Timothy Robert Hume Regnault, Jann Rhodes, Michael J. Rieder, Henrique Rigatto, Natalie E Rintoul, Roberto Romero, Seamus A. Rooney, James C. Rose, Charles R. Rosenfeld, Arthur J. Ross, Colin D. Rudolph, Martin Rutter, Thor Willy Ruud-Hansen, Rakesh Sahni, Harvey B. Sarnat, Lisa M. Satlin, Ola Didrik Saugstad, Kurt R. Schibler, Frank C. Schmalstieg, Karl Schulze, Jeffrey Schwartz, Gunnar Sedin, Jeffrey L. Segar, Istvan Seri, Thomas H. Shaffer, Philip W. Shaul, Jayant P. Shenai, Colin P. Sibley, Gary C. Sieck, Theresa M. Siler-Khodr, Rebecca Anne Simmons, Emidio M. Sivieri, Harold C. Slavkin, Brian S. Snarr, Evan Y. Snyder, Jeanne M. Snyder, Martha Sola-Visner, Michael J. Solhaug, Charles A. Stanley, F. Bruder Stapleton, Barbara S. Stonestreet, Dennis M. Styne, William E. Sweeney, Deanna T. Taylor, Paul S. Thornton, Jeffrey A. Towbin, William E. Truog, Reginald C. Tsang, Nicole Ullrich, Edi Vaisbuch, John E. Van Aerde, Carmella van de Ven, Johannes (Hans) B. van Goudoever, Minke Van Tuyl, Robert C. Vannucci, Susan J. Vannucci, Matteo Vatta, Daniela Virgintino, Joseph J. Volpe, MaryAnn V. Volpe, Reidar Wallin, David Warburton, Robert M. Ward, Kristi L. Watterberg, Steven L. Werlin, Lynne A. Werner, Susan E. Wert, Andy Wessels, †Lars Grabow Westergaard, Jeffrey A. Whitsett, Michaelann S. Wilke, Louise Wilkins-Haug, †Dermot H. Williamson, Craig B. Woda, Douglas A. Woelkers, Marla R. Wolfson, Robert P. Woroniecki, Stephen Yip, Mervin C. Yoder, Stephen L. Young, Dan Zhou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52b4a87081be2b30749f95790464899a
https://doi.org/10.1016/b978-1-4160-3479-7.10200-9