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Article

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.

JAMA - 11 Jul 2023

Maron Jill L, Kingsmore Stephen, Gelb Bruce D, Vockley Jerry, Wigby Kristen, Bragg Jennifer, Stroustrup Annemarie, Poindexter Brenda, Suhrie Kristen, Kim Jae H, Diacovo Thomas, Powell Cynthia M, Trembath Andrea, Guidugli Lucia, Ellsworth Katarzyna A, Reed Dallas, Kurfiss Anne, Breeze Janis L, Trinquart Ludovic, Davis Jonathan M

Abstract excerpt

Importance: Genomic testing in infancy guides medical decisions and can improve health outcomes. However, it is unclear whether genomic sequencing or a targeted neonatal gene-sequencing test provides comparable molecular diagnostic yields and times to return of results. Objective: To compare outcomes of genomic sequencing with those of a targeted neonatal gene-sequencing test. Design, Setting, and Participants:...

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Share to Clinical Decision-Making
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Profile

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Source

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Identifiers

PMID: 37432431
DOI: 10.1001/jama.2023.9350
PMCID: PMC10336625

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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