Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of...
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
About this item
Full title
Author / Creator
RADICON-NL consortium , on behalf of RADICON-NL consortium , Olde Keizer, Richelle A. C. M. , Marouane, Abderrahim , Kerstjens-Frederikse, Wilhelmina S. , Deden, A. Chantal , Lichtenbelt, Klaske D. , Jonckers, Tinneke , Vervoorn, Marieke , Vreeburg, Maaike , Henneman, Lidewij , de Vries, Linda S. , Sinke, Richard J. , Pfundt, Rolph , Stevens, Servi J. C. , Andriessen, Peter , van Lingen, Richard A. , Nelen, Marcel , Scheffer, Hans , Stemkens, Daphne , Oosterwijk, Cor , van Amstel, Hans Kristian Ploos , de Boode, Willem P. , van Zelst-Stams, Wendy A. G. , Frederix, Geert W. J. and Vissers, Lisenka E. L. M.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
The introduction of rapid exome sequencing (rES) for critically ill neonates admitted to the neonatal intensive care unit has made it possible to impact clinical decision-making. Unbiased prospective studies to quantify the impact of rES over routine genetic testing are, however, scarce. We performed a clinical utility study to compare rES to conve...
Alternative Titles
Full title
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
Authors, Artists and Contributors
Author / Creator
on behalf of RADICON-NL consortium
Olde Keizer, Richelle A. C. M.
Marouane, Abderrahim
Kerstjens-Frederikse, Wilhelmina S.
Deden, A. Chantal
Lichtenbelt, Klaske D.
Jonckers, Tinneke
Vervoorn, Marieke
Vreeburg, Maaike
Henneman, Lidewij
de Vries, Linda S.
Sinke, Richard J.
Pfundt, Rolph
Stevens, Servi J. C.
Andriessen, Peter
van Lingen, Richard A.
Nelen, Marcel
Scheffer, Hans
Stemkens, Daphne
Oosterwijk, Cor
van Amstel, Hans Kristian Ploos
de Boode, Willem P.
van Zelst-Stams, Wendy A. G.
Frederix, Geert W. J.
Vissers, Lisenka E. L. M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10257607
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10257607
Other Identifiers
ISSN
1432-1076,0340-6199
E-ISSN
1432-1076
DOI
10.1007/s00431-023-04909-1
