Gene selection for genomic newborn screening: Moving toward consensus?
Most Cited Paper
in Metabolism and Genetic Disorders
18 Months Post-Publication
Class of 2026
“Gene selection for genomic newborn screening: Moving toward consensus?”
A research intelligence initiative by Pepkio
pri.pepkio.com
Topics
genomic newborn screening · Gene curation · gene-disease validity · Treatable conditions · Age of disease onset · Gene curation · Gene-disease pairs · Gene curation · metabolic conditions · immunodeficiencies · endocrine disorders · variant detection reliability · Gene curation · Gene curation · Gene curation · international gNBS projects comparison
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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