Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lucita Van Der Kraan"'
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:
Eric Ontiveros, Liana Protopsaltis, Rebecca Baer, Matthew Bainbridge, Bryant Cao, Yan Ding, Katarzyna (Kasia) Ellsworth, Laura Forero, Erwin Frise, Lucia Guidugli, YongHyun Kwon, Jennie Le, Scott Oltman, Mallory Owen, Erica Sanford Kobayashi, Lucita Van Der Kraan, Meredith Wright, Mark Yandell, Laura Jelliffe-Pawlowski, Gretchen Bandoli, Christina Chambers, Stephen Kingsmore
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101053- (2024)
Externí odkaz:
https://doaj.org/article/63819eca9b15442a9543c6cdea32b6cc
Autor:
Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers, Stephen F. Kingsmore
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
Abstract Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a rich resource for population genomic studies. To fully harness this resource in such studies,
Externí odkaz:
https://doaj.org/article/d52683be3c8840f3a3efba386f5f9b2e
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