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Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit

12 Feb 2019

Abstract excerpt

AIM: To investigate the diagnostic and service impact of chromosomal microarray and whole exome sequencing (WES) in a neonatal intensive care unit (NICU). METHODS: This was a retrospective medical record review of NICU patients referred for genetics consultation at three time points over a 9-year period at a single centre to determine referral indications, genetic consultation outcomes and time to diagnosis....

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PMID: 30756437
DOI: 10.1111/jpc.14398

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