Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Shyamal S. Mehtalia"'
Autor:
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
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Rapid diagnosis and implementation of treatments is crucial in many genetic conditions. Here the authors describe Genome-to-Treatment, a virtual disease management system that can achieve a rapid diagnosis by expedited whole genome sequencing in 13.5
Externí odkaz:
https://doaj.org/article/c8a8f4d045b24f4586c6fb67d44e877e
Autor:
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.
Publikováno v:
American journal of human genetics, vol 109, iss 9
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-genome sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e5398764608d2c19993194c7d957e0
https://doi.org/10.1016/j.ajhg.2022.08.003
https://doi.org/10.1016/j.ajhg.2022.08.003
Autor:
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
Publikováno v:
N Engl J Med
Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fdf8243084399b2bccf87ef969c176
https://europepmc.org/articles/PMC9844116/
https://europepmc.org/articles/PMC9844116/
Autor:
Behera S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Catreux S; Illumina, Inc., San Diego, CA, USA. scatreux@illumina.com., Rossi M; Illumina, Inc., San Diego, CA, USA., Truong S; Illumina, Inc., San Diego, CA, USA., Huang Z; Illumina, Inc., San Diego, CA, USA., Ruehle M; Illumina, Inc., San Diego, CA, USA., Visvanath A; Illumina, Inc., San Diego, CA, USA., Parnaby G; Illumina, Inc., San Diego, CA, USA., Roddey C; Illumina, Inc., San Diego, CA, USA., Onuchic V; Illumina, Inc., San Diego, CA, USA., Finocchio A; Illumina, Inc., San Diego, CA, USA., Cameron DL; Illumina, Inc., San Diego, CA, USA., English A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Mehtalia S; Illumina, Inc., San Diego, CA, USA., Han J; Illumina, Inc., San Diego, CA, USA. jhan6@illumina.com., Mehio R; Illumina, Inc., San Diego, CA, USA. rmehio@illumina.com., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.; Department of Computer Science, Rice University, Houston, TX, USA. fritz.sedlazeck@bcm.edu.
Publikováno v:
Nature biotechnology [Nat Biotechnol] 2024 Oct 25. Date of Electronic Publication: 2024 Oct 25.
Autor:
Behera S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Catreux S; Illumina Inc., San Diego, CA, USA., Rossi M; Illumina Inc., San Diego, CA, USA., Truong S; Illumina Inc., San Diego, CA, USA., Huang Z; Illumina Inc., San Diego, CA, USA., Ruehle M; Illumina Inc., San Diego, CA, USA., Visvanath A; Illumina Inc., San Diego, CA, USA., Parnaby G; Illumina Inc., San Diego, CA, USA., Roddey C; Illumina Inc., San Diego, CA, USA., Onuchic V; Illumina Inc., San Diego, CA, USA., Cameron DL; Illumina Inc., San Diego, CA, USA., English A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Mehtalia S; Illumina Inc., San Diego, CA, USA., Han J; Illumina Inc., San Diego, CA, USA., Mehio R; Illumina Inc., San Diego, CA, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, TX, USA.; Department of Computer Science, Rice University, TX, USA.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Jan 06. Date of Electronic Publication: 2024 Jan 06.