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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease
Author(s) -
The NICUSeq Study Group,
Ian D. Krantz,
Līvija Medne,
Jamila Weatherly,
K. Taylor Wild,
Sawona Biswas,
Batsal Devkota,
Tiffiney R. Hartman,
Luca Brunelli,
Kristen Fishler,
Omar AbdulRahman,
Joshua C. Euteneuer,
Denise M. Hoover,
David Dimmock,
John P. Cleary,
Lauge Farnaes,
Jason Knight,
Adam J. Schwarz,
Ofelia Vargas-Shiraishi,
Kristin Wigby,
Neda Zadeh,
Marwan Shinawi,
Jennifer Wambach,
Dustin Baldridge,
F. Sessions Cole,
Daniel Wegner,
Nora Urraca,
Shan Holtrop,
Roya Mostafavi,
Henry J. Mroczkowski,
Enikö K. Pivnick,
Jewell C. Ward,
Ajay J. Talati,
Chester Brown,
John W. Belmont,
Julia Ortega,
Keisha Robinson,
W. Tyler Brocklehurst,
Denise Perry,
Subramanian S. Ajay,
R. Tanner Hagelstrom,
Maren Bennett,
Vani Rajan,
Ryan J. Taft
Publication year - 2021
Publication title -
jama pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.004
H-Index - 183
eISSN - 2168-6211
pISSN - 2168-6203
DOI - 10.1001/jamapediatrics.2021.3496
Subject(s) - medicine , randomized controlled trial , pediatrics , intensive care , clinical trial , psychological intervention , population , emergency medicine , intensive care medicine , nursing , environmental health
Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence of an effect on clinical management.

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