Zobrazeno 1 - 10
of 69
pro vyhledávání: '"rapid whole-genome sequencing"'
Autor:
Ana Maria Rodriguez, Katherine Schain, Parul Jayakar, Meredith S. Wright, Shimul Chowdhury, Daria Salyakina
Publikováno v:
Clinical Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)
Key Clinical Message We report two, genotypically identical but phenotypically distinct cases of Schaaf‐Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of chi
Externí odkaz:
https://doaj.org/article/05e06569fdec4dc7b581d9e063ad1424
Akademický článek
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Autor:
Erica Sanford Kobayashi, Bryce Waldman, Branden M. Engorn, Katherine Perofsky, Erika Allred, Benjamin Briggs, Chelsea Gatcliffe, Nanda Ramchandar, Jeffrey J. Gold, Ami Doshi, Elizabeth G. Ingulli, Courtney D. Thornburg, Wendy Benson, Lauge Farnaes, Shimul Chowdhury, Seema Rego, Charlotte Hobbs, Stephen F. Kingsmore, David P. Dimmock, Nicole G. Coufal
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the ICU ou
Externí odkaz:
https://doaj.org/article/e4d764dcb81347038e600251a1741c59
Autor:
Caleb P. Bupp, Elizabeth G. Ames, Madison K. Arenchild, Sara Caylor, David P. Dimmock, Joseph D. Fakhoury, Padmani Karna, April Lehman, Cristian I. Meghea, Vinod Misra, Danielle A. Nolan, Jessica O’Shea, Aditi Sharangpani, Linda S. Franck, Andrea Scheurer-Monaghan
Publikováno v:
Children, Vol 10, Iss 1, p 106 (2023)
The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan’s Project Baby
Externí odkaz:
https://doaj.org/article/22700c89a5f447c3b114f0d7fe66e8a4
Akademický článek
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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
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kelly M. Werner, Matthew J. Bizzarro, Allen E. Bale, Hui Zhang, Kaya Bilguvar, Patrick G. Gallagher, James R. Knight, Irina Tikhonova, Jeffrey R. Gruen, Sacha Ferdinandusse, Rima Fawaz, Emily Qian, Yonghui Jiang, Preti Jain, Allison J Cox, Christopher Castaldi, Weizhen Ji
Publikováno v:
American journal of medical genetics. Part A, 188(1), 357-363. Wiley-Liss Inc.
Am J Med Genet A
Am J Med Genet A
D-bifunctional protein (DBP) deficiency is a rare, autosomal recessive peroxisomal enzyme deficiency resulting in a high burden of morbidity and early mortality. Patients with DBP deficiency resemble those with a severe Zellweger phenotype, with neon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ba12dc4e281fa4e77bbe41f838ec2a5
http://www.scopus.com/inward/record.url?scp=85116526259&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85116526259&partnerID=8YFLogxK
Autor:
Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Julie Harvengt, François Boemer, André Mulder, Sandrine Vaessen, Renaud Viellevoye, Leonor Palmeira, Benoit Charloteaux, Anne Brysse, Saskia Bulk, Vincent Rigo, Vincent Bours
Publikováno v:
International Journal of Molecular Sciences
Volume 24
Issue 4
Pages: 4003
Volume 24
Issue 4
Pages: 4003
Rapid Whole Genome Sequencing (rWGS) represents a valuable exploration in critically ill pediatric patients. Early diagnosis allows care to be adjusted. We evaluated the feasibility, turnaround time (TAT), yield, and utility of rWGS in Belgium. Twent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eec707098b14fe394d17bb867c571fd
Autor:
Bupp, Caleb P, Ames, Elizabeth G, Arenchild, Madison K, Caylor, Sara, Dimmock, David P, Fakhoury, Joseph D, Karna, Padmani, Lehman, April, Meghea, Cristian I, Misra, Vinod, Nolan, Danielle A, O'Shea, Jessica, Sharangpani, Aditi, Franck, Linda S, Scheurer-Monaghan, Andrea
Publikováno v:
Children (Basel, Switzerland), vol 10, iss 1
The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan's Project Baby De
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::aef7d367afe332d863fe901e3971e619
https://escholarship.org/uc/item/91c4k3p4
https://escholarship.org/uc/item/91c4k3p4
