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. |
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| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40913169 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Cope+HL%22">Cope HL</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA. hcope@rti.org.<br /><searchLink fieldCode="AU" term="%22Jalazo+ER%22">Jalazo ER</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Berg+JS%22">Berg JS</searchLink>; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Sullivan+JA%22">Sullivan JA</searchLink>; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Kucera+KS%22">Kucera KS</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Shone+SM%22">Shone SM</searchLink>; Division of Public Health, North Carolina Department of Health and Human Services, Raleigh, NC, USA.<br /><searchLink fieldCode="AU" term="%22Frawley+HE%22">Frawley HE</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Gwaltney+AY%22">Gwaltney AY</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Forsythe+AN%22">Forsythe AN</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Migliore+BA%22">Migliore BA</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Wright+B%22">Wright B</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Moultrie+RR%22">Moultrie RR</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Milko+LV%22">Milko LV</searchLink>; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Zimmerman+RS%22">Zimmerman RS</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Kruszka+P%22">Kruszka P</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Suchy+SF%22">Suchy SF</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Begtrup+A%22">Begtrup A</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Langley+KG%22">Langley KG</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Monaghan+KG%22">Monaghan KG</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Kraczkowski+C%22">Kraczkowski C</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Guenzel+AJ%22">Guenzel AJ</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22McWalter+K%22">McWalter K</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hruska+KS%22">Hruska KS</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bailey+DB+Jr%22">Bailey DB Jr</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Wheeler+AC%22">Wheeler AC</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Raspa+M%22">Raspa M</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Powell+CM%22">Powell CM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Peay+HL%22">Peay HL</searchLink>; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22Early+Check+Program%22">Early Check Program</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229502015%22">Nature medicine</searchLink> [Nat Med] 2025 Nov; Vol. 31 (11), pp. 3762-3771. <i>Date of Electronic Publication: </i>2025 Sep 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Company%22">Nature Publishing Company </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9502015 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1546-170X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210788956%22">10788956 </searchLink><i>NLM ISO Abbreviation: </i>Nat Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40913169 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41591-025-03945-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 3762 Titles: – TitleFull: Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cope HL – PersonEntity: Name: NameFull: Jalazo ER – PersonEntity: Name: NameFull: Berg JS – PersonEntity: Name: NameFull: Sullivan JA – PersonEntity: Name: NameFull: Kucera KS – PersonEntity: Name: NameFull: Shone SM – PersonEntity: Name: NameFull: Frawley HE – PersonEntity: Name: NameFull: Gwaltney AY – PersonEntity: Name: NameFull: Forsythe AN – PersonEntity: Name: NameFull: Migliore BA – PersonEntity: Name: NameFull: Wright B – PersonEntity: Name: NameFull: Moultrie RR – PersonEntity: Name: NameFull: Milko LV – PersonEntity: Name: NameFull: Zimmerman RS – PersonEntity: Name: NameFull: Kruszka P – PersonEntity: Name: NameFull: Suchy SF – PersonEntity: Name: NameFull: Begtrup A – PersonEntity: Name: NameFull: Langley KG – PersonEntity: Name: NameFull: Monaghan KG – PersonEntity: Name: NameFull: Kraczkowski C – PersonEntity: Name: NameFull: Guenzel AJ – PersonEntity: Name: NameFull: McWalter K – PersonEntity: Name: NameFull: Hruska KS – PersonEntity: Name: NameFull: Bailey DB Jr – PersonEntity: Name: NameFull: Wheeler AC – PersonEntity: Name: NameFull: Raspa M – PersonEntity: Name: NameFull: Powell CM – PersonEntity: Name: NameFull: Peay HL IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 11 Text: 2025 Nov Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1546-170X Numbering: – Type: volume Value: 31 – Type: issue Value: 11 Titles: – TitleFull: Nature medicine Type: main |
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