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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

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）

Cited 11|Views59
Key words
Diagnostic workflow,Neonates,Economic evaluation,Clinical utility,Rapid exome sequencing
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