Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Thomas Defay"'
Autor:
Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101043- (2024)
Externí odkaz:
https://doaj.org/article/5daec32c1b634cde9bb11add9157b198
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:
Jignesh R. Parikh, Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz-Abe, Morgan Danowski, Andrew Quitadomo, Jill A. Madden, Calum Yacoubian, Richard Gain, Tessa Williams, Mary Meskell, Andrew Brown, Alison Frith, Shira Rockowitz, Piotr Sliz, Pankaj B. Agrawal, Thomas Defay, Paul McDonagh, John Reynders, Sebastien Lefebvre, Alan H. Beggs
Publikováno v:
HGG Advances, Vol 2, Iss 3, Pp 100035- (2021)
Summary: Effective genetic diagnosis requires the correlation of genetic variant data with detailed phenotypic information. However, manual encoding of clinical data into machine-readable forms is laborious and subject to observer bias. Natural langu
Externí odkaz:
https://doaj.org/article/09612260c0294786a968d7c8a5a22a56
Autor:
Jerry Vockley, Annemieke Aartsma‐Rus, Jennifer L. Cohen, Lex M. Cowsert, R. Rodney Howell, Timothy W. Yu, Melissa P. Wasserstein, Thomas Defay
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:19-29
Rare genetic disorders affect as many as 3%-5% of all babies born. Approximately 10,000 such disorders have been identified or hypothesized to exist. Treatment is supportive except in a limited number of instances where specific therapies exist. Deve
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:77-86
Development of genetic tests for rare genetic diseases has traditionally focused on individual diseases. Similarly, development of new therapies occurred one disease at a time. With10,000 rare genetic diseases, this approach is not feasible. Diagnosi
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
Autor:
Julie Lekstrom‐Himes, Erika F. Augustine, Amy Brower, Thomas Defay, Richard S. Finkel, Amy L. McGuire, Mark W. Skinner, Timothy W. Yu
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES.
Recent advancements in gene-targeted therapies have highlighted the critical role data sharing plays in successful translational drug development for people with rare diseases. To scale these efforts, we need to systematize these sharing principles,
Autor:
Julia Catini, Quan Doan, Jennifer Evans, Andrew Rava, Thomas Defay, Guillermo Del Angel, Megan Teynor, Candida Cristina Quarta, Mathew S. Maurer, Isabelle Lousada
Publikováno v:
Blood. 140:4330-4331
Autor:
Mary Meskell, Tessa Williams, Alison Frith, Klaus Schmitz-Abe, Calum Yacoubian, Paul D. McDonagh, Catherine A. Brownstein, Andrew Brown, Pankaj B. Agrawal, Shira Rockowitz, Alan H. Beggs, Asli Aykanat, Andrew Quitadomo, John Reynders, Thomas Defay, Sebastien Lefebvre, Jignesh R. Parikh, Casie A. Genetti, Richard Gain, Jill A. Madden, Piotr Sliz, Morgan Danowski
Publikováno v:
HGG Advances, Vol 2, Iss 3, Pp 100035-(2021)
HGG advances
HGG advances
Summary: Effective genetic diagnosis requires the correlation of genetic variant data with detailed phenotypic information. However, manual encoding of clinical data into machine-readable forms is laborious and subject to observer bias. Natural langu
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/