The role of exome sequencing in newborn screening for inborn errors of metabolism
The role of exome sequencing in newborn screening for inborn errors of metabolism
About this item
Full title
Author / Creator
Adhikari, Aashish N. , Gallagher, Renata C. , Wang, Yaqiong , Currier, Robert J. , Amatuni, George , Bassaganyas, Laia , Chen, Flavia , Kundu, Kunal , Kvale, Mark , Mooney, Sean D. , Nussbaum, Robert L. , Randi, Savanna S. , Sanford, Jeremy , Shieh, Joseph T. , Srinivasan, Rajgopal , Sunderam, Uma , Tang, Hao , Vaka, Dedeepya , Zou, Yangyun , Koenig, Barbara A. , Kwok, Pui-Yan , Risch, Neil , Puck, Jennifer M. and Brenner, Steven E.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry (MS/MS) is currently used to screen newborns for a panel of rare inborn errors of metabolism (IEMs)
1
–
4
. The NBSeq project evaluated whole-exome sequencing (WES...
Alternative Titles
Full title
The role of exome sequencing in newborn screening for inborn errors of metabolism
Authors, Artists and Contributors
Author / Creator
Gallagher, Renata C.
Wang, Yaqiong
Currier, Robert J.
Amatuni, George
Bassaganyas, Laia
Chen, Flavia
Kundu, Kunal
Kvale, Mark
Mooney, Sean D.
Nussbaum, Robert L.
Randi, Savanna S.
Sanford, Jeremy
Shieh, Joseph T.
Srinivasan, Rajgopal
Sunderam, Uma
Tang, Hao
Vaka, Dedeepya
Zou, Yangyun
Koenig, Barbara A.
Kwok, Pui-Yan
Risch, Neil
Puck, Jennifer M.
Brenner, Steven E.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8800147
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8800147
Other Identifiers
ISSN
1078-8956
E-ISSN
1546-170X
DOI
10.1038/s41591-020-0966-5
