Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
#3PRI RANKED
Most Cited Paper
in Metabolism and Genetic Disorders
18 Months Post-Publication
Class of 2026
“Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions”
A research intelligence initiative by Pepkio
pri.pepkio.com
Topics
Whole genome sequencing · Newborn screening · GUARDIAN study · early-onset genetic conditions · neurodevelopmental disorders · seizure-associated disorders · Dried blood spot · screen-positive rate · targeted gene interpretation · racial and ethnic diversity · genomic newborn screening · New York State Newborn Screening Program · 156 genetic conditions panel · 99 neurodevelopmental disorders panel · biomarker detection · prospective observational study · Expanded newborn screening · Treatable monogenic disorders · multisite enrollment · supplemental genome screening
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Pepkio Research Index (PRI). Topics and Trends in Most Cited Metabolism and Genetic Disorders Papers, Class of 2026. https://pri.pepkio.com/top-papers/metabolism-and-genetic-disorders/2026. Accessed 2026-07-24. Methodology Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459