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  1. Article

    Open Access

    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

    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 t...

    Richelle A. C. M. Olde Keizer, Abderrahim Marouane in European Journal of Pediatrics (2023)