المؤلفون: Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/c8a8f4d045b24f4586c6fb67d44e877e

المؤلفون: Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Angel, David P. Dimmock, Yan Ding, Katarzyna Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark Kiel, Lucita Van Der Kraan, Chad Krilow, Yong H. Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sebastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory J. Owen, George Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal S. Mehtalia, Albert Oriol, Stavros Papadopoulos, James Perry, Edwin Rosales, Erica Sanford, Steve Schwartz, Duke Tran, Martin G. Reese, Meredith Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary J. Willis, Aaron R. Wolen, Thomas Defay.

المصدر: American journal of human genetics, vol 109, iss 9

مصطلحات موضوعية: clinical decision support, UK Biobank, diagnosis, Critical Illness, clinical utility, specificity, rapid whole-genome sequencing, Medical and Health Sciences, Neonatal Screening, Rare Diseases, genetic disease, Clinical Research, Genetics, Humans, Genetic Testing, Precision Medicine, Child, Genetics (clinical), Retrospective Studies, Pediatric, Genetics & Heredity, virtual management guidance, newborn screening, Prevention, diagnostic odyssey, Human Genome, Infant, Newborn, Infant, Perinatal Period - Conditions Originating in Perinatal Period, Biological Sciences, Newborn, sensitivity, gene therapy, orphan drug, Brain Disorders, Good Health and Well Being

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e5398764608d2c19993194c7d957e0
https://doi.org/10.1016/j.ajhg.2022.08.003

المؤلفون: Anna-Kaisa Niemi, Kevin Hall, Meredith S. Wright, Mark Speziale, Louise Fraser, Jerica Lenberg, Shimul Chowdhury, Tim K McPhail, Sergey Batalov, Luca Van Der Kraan, Kevin K Chau, David Dimmock, Vicki S Thomson, Christian Hansen, Yan Ding, Mark Nespeca, Shyamal S Mehtalia, Sheldon Gilmer, Stephen F. Kingsmore, Mallory J Owen, Zhanyang Zhu, Gail Knight, Chris M Kunard, Charlotte A. Hobbs, Jacqueline Weir, John Reynders, Narayanan Veeraraghavan, Bryan R. Lajoie, Sebastien Lefebvre, Shareef Nahas, Thomas Defay

المصدر: N Engl J Med

مصطلحات موضوعية: Whole genome sequencing, Infantile encephalopathy, 2019-20 coronavirus outbreak, business.industry, Thiamine Metabolism, General Medicine, Bioinformatics, Genome, Article, Neurologic injury, X ray computed, Medicine, business, Genetic diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fdf8243084399b2bccf87ef969c176
https://europepmc.org/articles/PMC9844116/