Výsledky vyhledávání - "Joshua J.A. Braun"

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

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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

Autor: David Dimmock, Dorjee Tamang, Sarah White, Peter Schols, Michelle M. Clark, Zaira Bezares, Richard S. Song, Sandra Leibel, Denise Suttner, Jennie Le, Charlotte A. Hobbs, Casey Cohenmeyer, Katarzyna A. Ellsworth, Brian Lane, Amber Hildreth, Lauge Farnaes, Kelly Watkins, Kiely N. James, Terence C. Wong, Cinnamon S. Bloss, Nicole G. Coufal, Laura Puckett, Mari Tokita, Lance Prince, Amy S. Kimball, Narayanan Veeraraghavan, Shareef Nahas, Cyrielle Kint, Yan Ding, Paulina Ordonez, Jaime Barea, Erica Sanford, Kristen Wigby, Daniken Orendain, Maria Ortiz-Arechiga, Meredith S. Wright, Dana Mashburn, Sara A. Caylor, Nathaly M. Sweeney, Joshua J.A. Braun, Christina Clarke, Audra Wise, Lisa Salz, Charles Sauer, Jenni Friedman, George Chiang, Jerica Lenberg, Mark Speziale, Laurel Moyer, Michele Feddock, Jeanne Carroll, Patrick Mulrooney, Raymond Hovey, Stephen F. Kingsmore, Marva Evans, Sergey Batalov, Albert Oriol, Joe Gleeson, Jose Honold, Carlos Diaz, Mary Gaughran, Julie A. Cakici, Crystal Le, Catherine Yamada, Shimul Chowdhury, Gail Knight, Matthew N. Bainbridge, Lucitia Van Der Kraan, Daeheon Oh, Iris Reyes

Publikováno v: American journal of human genetics, vol 105, iss 4

The second Newborn Sequencing in Genomic Medicine and Public Health study was a randomized, controlled trial of the effectiveness of rapid whole-genome or -exome sequencing (rWGS or rWES, respectively) in seriously ill infants with diseases of unknow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93db546ed65a145dd456f452b1b6a911
https://escholarship.org/uc/item/9h05k7vh

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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Autor: Terence C. Wong, Marie L. Janes, John Reynders, Martin G. Reese, Brett Williams, Patrick Mulrooney, Sergey Batalov, Kristen Wigby, Brandon Camp, Lauge Farnaes, Joshua J.A. Braun, Meredith S. Wright, Narayanan Veeraraghavan, Jeremy Gore, Shareef Nahas, David Dimmock, Sheldon Gilmer, Lisa Salz, Albert Oriol, Mari Tokita, Kejia Lin, Thomas Defay, Erica Sanford, Catherine Yamada, Nathaly M. Sweeney, Stephen F. Kingsmore, Yan Ding, Christina Clarke, Laura Puckett, Katarzyna A. Ellsworth, Richard Gain, Shauna George, Luca Van Der Kraan, Margaret Bray, Mary Gaughran, Curtis Beebe, Alison Frith, Kevin Hall, Kyle McBride, Amber Hildreth, Michelle M. Clark, Haiying Li Grunenwald, Julie Ryu, Cyrielle Kint, Kelly Watkins, Mitchell Creed, Jennifer Friedman, Shimul Chowdhury, Paul D. McDonagh, Zia Rady, Peter Schols, Joseph G. Gleeson, Julie A. Cakici, Lawrence Stewart, Raymond Hovey, Jeanne Carroll, Matthew N. Bainbridge, Daeheon Oh, Calum Yacoubian, Sara A. Caylor, Sarah White

Publikováno v: Science translational medicine. 11(489)

By informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and pediatric intensive care units (ICUs). The need for highly qualified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eae12e1a0000f934abf88f8fe62cbf0a
https://pubmed.ncbi.nlm.nih.gov/31171871

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