Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Katarzyna Ellsworth"'
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Autor:
Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/9bb3ad6b45f84c10a06a89c6cbf0b68e
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:
Frits A. Wijburg, Marzia Pasquali, Haoyue Zhang, Tim Wood, Paul Harmatz, Pamela Lavoie, Naomi van Vlies, Nicole Miller, Christiane Auray-Blais, Giancarlo la Marca, Emanuela Izzo, Katarzyna Ellsworth, Roberto Giugliani, David S. Millington, Minh-Uyen Trinh, Michael Fietz
Publikováno v:
Molecular Genetics and Metabolism. 114:S91
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be144c4b73ffdc25b574b643cf380d21
https://doi.org/10.1016/j.ymgme.2014.12.202
https://doi.org/10.1016/j.ymgme.2014.12.202
Autor:
Tim Wood, Haoyue Zhang, Frits A. Wijburg, Paul Harmatz, Nicole Miller, Pamela Lavoie, Roberto Giugliani, Christiane Auray-Blais, Naomi van Vlies, Katarzyna Ellsworth, David S. Millington
Publikováno v:
Molecular Genetics and Metabolism. 114:S16
CO RR EC TE D P RO OF patients affected with different types of MPS, such as Hurler, Hurler/ Scheie and Scheie (MPS I/H, IH/S, I/S), Hunter (MPS II), Sanfilippo (MPS III), Morquio (MPS IV) and Maroteaux–Lamy (MPS VI) syndromes. Therefore, we have d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b196166b3a47f98cf3d3126d7e9801b8
https://doi.org/10.1016/j.ymgme.2014.12.017
https://doi.org/10.1016/j.ymgme.2014.12.017