Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.

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Title: Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
Authors: Cope HL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA. hcope@rti.org., Jalazo ER; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Berg JS; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Sullivan JA; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Kucera KS; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Shone SM; Division of Public Health, North Carolina Department of Health and Human Services, Raleigh, NC, USA., Frawley HE; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Gwaltney AY; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Forsythe AN; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Migliore BA; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Wright B; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Moultrie RR; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Milko LV; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Zimmerman RS; GeneDx, LLC, Gaithersburg, MD, USA., Kruszka P; GeneDx, LLC, Gaithersburg, MD, USA., Suchy SF; GeneDx, LLC, Gaithersburg, MD, USA., Begtrup A; GeneDx, LLC, Gaithersburg, MD, USA., Langley KG; GeneDx, LLC, Gaithersburg, MD, USA., Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA., Kraczkowski C; GeneDx, LLC, Gaithersburg, MD, USA., Guenzel AJ; GeneDx, LLC, Gaithersburg, MD, USA., McWalter K; GeneDx, LLC, Gaithersburg, MD, USA., Hruska KS; GeneDx, LLC, Gaithersburg, MD, USA., Bailey DB Jr; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Wheeler AC; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Raspa M; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA., Powell CM; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Peay HL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.
Corporate Authors: Early Check Program
Source: Nature medicine [Nat Med] 2025 Nov; Vol. 31 (11), pp. 3762-3771. Date of Electronic Publication: 2025 Sep 05.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1546-170X
DOI:10.1038/s41591-025-03945-8