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Article

Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.

The Journal of molecular diagnostics : JMD - 1 Mar 2020

Lee Stacey, Taylor Jennifer L, Redmond Charles, Hadd Andrew G, Kemppainen Jon A, Haynes Brian C, Shone Scott, Bailey Donald B, Latham Gary J

Abstract excerpt

Newborn screening is designed for presymptomatic identification of serious conditions with effective early interventions. Clinical laboratories must perform prospective pilot studies to ensure that the analytical performance and workflow for a given screening test are appropriate. We assessed the potential to screen newborns for fragile X syndrome, a monogenic neurodevelopmental disorder, by establishing a...

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Share to Fragile X Mental Retardation Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31866572
DOI: 10.1016/j.jmoldx.2019.11.002
PMCID: PMC7103763

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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