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 Richelle A. C. M. Olde Keizer , Abderrahim Marouane , Wilhelmina S. Kerstjens-Frederikse , A. Chantal Deden , Klaske D. Lichtenbelt , Tinneke Jonckers , Marieke Vervoorn , Maaike Vreeburg , Lidewij Henneman , Linda S. de Vries , Richard J. Sinke , Rolph Pfundt , Servi J. C. Stevens , Peter Andriessen , Richard A. van Lingen , Marcel Nelen , Hans Scheffer , Daphne Stemkens , Cor Oosterwijk , Hans Kristian Ploos van Amstel , Willem P. de Boode , Wendy A. G. van Zelst-Stams , Geert W. J. Frederix , Lisenka E. L. M. Vissers EUROPEAN JOURNAL OF PEDIATRICS（2023）
关键词
Diagnostic workflow, Neonates, Economic evaluation, Clinical utility, Rapid exome sequencing
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