Implementing an integrated multi‐technology platform for drug checking: Social, scientific, and technological considerations

Autor: Margo Ramsay, Jake Rothwell, Rory Hills, Flora Pagan, Jarred Aasen, Deepak Kumar, Jorin Weatherston, Lea Gozdzialski, Margaret-Anne Storey, Ian Garber, Thea van Roode, Shafiul Azam, Piotr Burek, Dennis K. Hore, Bernie Pauly, Ashley Larnder, Bruce Wallace

Publikováno v: Drug Testing and Analysis. 13:734-746

The illicit drug overdose crisis in North America continues to devastate communities with fentanyl detected in the majority of illicit drug overdose deaths. The COVID-19 pandemic has heightened concerns of even greater unpredictability in the drug su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe48a4a80eab35090d8af2a19030a9b
https://doi.org/10.1002/dta.3022

Exome Sequencing and the Management of Neurometabolic Disorders

Autor: David S. Wishart, Bojana Rakic, Casper Shyr, Rupasri Mandal, Maja Tarailo-Graovac, Andre Mattman, Cristina Skrypnyk, Patrice Eydoux, Paul Shekel, Majid Alfadhel, Stuart E. Turvey, Janis M. Dionne, Hilary Vallance, Michelle Demos, A. Mark Evans, Colin J. D. Ross, Anna Lehman, Matthias R. Baumgartner, Jacob Rozmus, Bryan Sayson, Jan M. Friedman, Margaret L. McKinnon, Andrea Superti-Furga, Leo A. J. Kluijtmans, Britt I. Drögemöller, Kathryn Selby, Mary B. Connolly, Gabriella Horvath, Daniel Metzger, Kirk R. Schultz, John K. Wu, Ian Garber, Linlea Armstrong, Jessie M. Cameron, Ramona Salvarinova, Clara D.M. van Karnebeek, Dimitrios I. Zafeiriou, Jiqiang Ling, Ron A. Wevers, Lin Hua Zhang, Jiang Wu, Oluseye A. Ogunbayo, Graham Sinclair, Sylvia Stockler-Ipsiroglu, Suzanne M E Lewis, Margot I. Van Allen, Jessica J. Y. Lee, Wyeth W. Wasserman, Mena Abdelsayed, Peter C. Ruben, Patricie Burda, Aspasia Michoulas, Sandra Sirrs, Saikat Santra, Xin C. Ye, Tammie Dewan, Amit P. Bhavsar

Publikováno v: The New England Journal of Medicine, 374, 2246-2255
Tarailo-Graovac, M, Shyr, C, Ross, C J, Horvath, G A, Salvarinova, R, Ye, X C, Zhang, L-H, Bhavsar, A P, Lee, J J Y, Drögemöller, B I, Abdelsayed, M, Alfadhel, M, Armstrong, L, Baumgartner, M R, Burda, P, Connolly, M B, Cameron, J, Demos, M, Dewan, T, Dionne, J, Evans, A M, Friedman, J M, Garber, I, Lewis, S, Ling, J, Mandal, R, Mattman, A, McKinnon, M, Michoulas, A, Metzger, D, Ogunbayo, O A, Rakic, B, Rozmus, J, Ruben, P, Sayson, B, Santra, S, Schultz, K R, Selby, K, Skehel, P, Sirrs, S, Skrypnyk, C, Superti-Furga, A, Turvey, S E, Van Allen, M I, Wishart, D, Wu, J, Wu, J, Zafeiriou, D, Kluijtmans, L, Wevers, R A, Eydoux, P, Lehman, A M, Vallance, H, Stockler-Ipsiroglu, S, Sinclair, G, Wasserman, W W & van Karnebeek, C D 2016, ' Exome Sequencing and the Management of Neurometabolic Disorders ', New England Journal of Medicine, vol. 374, no. 23, pp. 2246-2255 . https://doi.org/10.1056/NEJMoa1515792
New England journal of medicine, 374(23), 2246-2255. Massachussetts Medical Society
The New England Journal of Medicine, 374, 23, pp. 2246-2255

BACKGROUND: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn err

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1823805f7dbec3d76416ca8041bb3f3f
https://pubmed.ncbi.nlm.nih.gov/27282444