Article

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

2023-09-29

Abstract excerpt

Rapid advances in the screening, diagnosis, and treatment of genetic disorders has increased the number of conditions that could be detected through universal newborn screening (NBS). However, addition of conditions to the Recommended Uniform Screening Panel (RUSP) and implementation of nationwide screening has been a slow process taking several years to accomplish for individual conditions. Here we describe web-b...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 43367a33-aef0-5e2f-b649-dd0d0e78ba0b
DOI: 10.20944/preprints202309.2039.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening StakeholdersDOI 10.20944/preprints202309.2039.v1Read

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Follow-Up EffortsSemantic proximity Read

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBSSemantic proximity Read

Perspectives of Rare Disease Experts on Newborn Genome SequencingSemantic proximity Read

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesSemantic proximity Read

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS ProjectSemantic proximity Read

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disordersSemantic proximity Read

An algorithm to identify patients with rare genetic disorders and its real-world data applicationSemantic proximity Read

Genomic sequencing for newborn screening: current perspectives and challengesSemantic proximity Read

[Genomic newborn screening-research approaches, challenges, and opportunities].Semantic proximity Read

Analytical Validation of a Genomic Newborn Screening WorkflowSemantic proximity Read

Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocolSemantic proximity Read

Charting the Ethical Frontier in Newborn Screening: Insights from the NBSTRN ELSI Researcher Needs SurveySemantic proximity Read