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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.

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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: Olde Keizer, Richelle A. C. M.1 (AUTHOR), Marouane, Abderrahim2 (AUTHOR), Kerstjens-Frederikse, Wilhelmina S.3 (AUTHOR), Deden, A. Chantal2 (AUTHOR), Lichtenbelt, Klaske D.4 (AUTHOR), Jonckers, Tinneke5 (AUTHOR), Vervoorn, Marieke5 (AUTHOR), Vreeburg, Maaike6 (AUTHOR), Henneman, Lidewij7 (AUTHOR), de Vries, Linda S.8 (AUTHOR), Sinke, Richard J.3 (AUTHOR), Pfundt, Rolph2 (AUTHOR), Stevens, Servi J. C.6 (AUTHOR), Andriessen, Peter9,10 (AUTHOR), van Lingen, Richard A.11 (AUTHOR), Nelen, Marcel2 (AUTHOR), Scheffer, Hans2 (AUTHOR), Stemkens, Daphne12 (AUTHOR), Oosterwijk, Cor12 (AUTHOR), van Amstel, Hans Kristian Ploos4 (AUTHOR)
Source: European Journal of Pediatrics. Jun2023, Vol. 182 Issue 6, p2683-2692. 10p. 1 Diagram, 4 Charts, 1 Graph.
Database: Academic Search Ultimate
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Description
ISSN:03406199
DOI:10.1007/s00431-023-04909-1