Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mitchell Creed"'
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
https://pubmed.ncbi.nlm.nih.gov/31171871
Autor:
Sarah L Tsai, Carol J Saunders, Julie A. Cakici, Greyson P Twist, Isabelle Thiffault, Emily G. Farrow, Laurel K. Willig, Shannon L. Carpenter, Howard W. Kilbride, Ryan McDonough, Mitchell Creed, Ryan T. Fischer, Josh E Petrikin, J Allyson Hays, Jamie L Rosterman, Aaron Noll, Mark A. Clements, Laurie D. Smith, Sarah E Soden, Stephen F. Kingsmore, Suzanne Herd, Lee Zellmer, Neil A. Miller, Patria M Alba
Publikováno v:
The Lancet. Respiratory medicine. 3(5)
Summary Background Genetic disorders and congenital anomalies are the leading causes of infant mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3b58a723f5a623c9c545c5f66de650
https://pubmed.ncbi.nlm.nih.gov/25937000
https://pubmed.ncbi.nlm.nih.gov/25937000
Autor:
Laurel K. Willig, Ann C. Modrcin, Zhaohui Ye, Nicole P. Safina, Darrell L. Dinwiddie, Aaron Noll, Carol J Saunders, Xuan Yuan, Josh E Petrikin, Sarah S. Nyp, Robert A. Brodsky, Britton Zuccarelli, Mitchell Creed, Jean Baptiste LePichon, Neil A. Miller, Laurie D. Smith, Isabelle Thiffault, Lee Zellmer, Suzanne Herd, Andrea M. Atherton, Sarah E Soden, Bryce A. Heese, Ahmed Abdelmoity, Greyson P Twist, Emily G. Farrow, Stephen F. Kingsmore, Ingrid A. Larson
Publikováno v:
Science Translational Medicine. 6
Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::451cbf91f767c881f986a572affa97ec
https://doi.org/10.1126/scitranslmed.3010076
https://doi.org/10.1126/scitranslmed.3010076