View in EDS HTML Full Text PDF Full Text

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Saved in:
Bibliographic Details
Title: A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Authors: Carli D; Department of Medical Sciences, University of Turin, Turin, Italy.; Immunogenetics and Transplant Biology Unit, Città della Salute e della Scienza di Torino, Turin, Italy., Quarello P; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy., Porta F; Paediatric Inborn Errors of Metabolism, Department of Paediatrics, Regina Margherita Children's Hospital, Turin, Italy., Cagnazzo C; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy., Zucchetti G; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy., Proto CF; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy., Gianasso R; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy., Biamino E; Department of Paediatrics, Regina Margherita Children's Hospital, Turin, Italy., Carbonara C; Neonatal Intensive Care Unit, Sant'Anna Hospital, Città della Salute e della Scienza di Torino, Turin, Italy., Coscia A; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy.; Neonatal Unit, Sant'Anna Hospital, Città della Salute e della Scienza di Torino, Turin, Italy., Parlato C; Italian Institute for Genomic Medicine, Istituto di Ricovero e Cura a Carattere Scientifico, Candiolo, Italy., Fenoglio B; Italian Institute for Genomic Medicine, Istituto di Ricovero e Cura a Carattere Scientifico, Candiolo, Italy., Guarrera S; Italian Institute for Genomic Medicine, Istituto di Ricovero e Cura a Carattere Scientifico, Candiolo, Italy., Spada M; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy.; Department of Paediatrics, Regina Margherita Children's Hospital, Turin, Italy., Mussa A; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy.; Paediatric Clinical Genetics Unit, Regina Margherita Children's Hospital, Turin, Italy., Minucci S; Italian Institute for Genomic Medicine, Istituto di Ricovero e Cura a Carattere Scientifico, Candiolo, Italy., Fagioli F; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy.
Source: JAMA network open [JAMA Netw Open] 2025 Oct 01; Vol. 8 (10), pp. e2538198. Date of Electronic Publication: 2025 Oct 01.
Publication Type: Journal Article
Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41105405
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Carli+D%22">Carli D</searchLink>; Department of Medical Sciences, University of Turin, Turin, Italy.; Immunogenetics and Transplant Biology Unit, Città della Salute e della Scienza di Torino, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Quarello+P%22">Quarello P</searchLink>; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Porta+F%22">Porta F</searchLink>; Paediatric Inborn Errors of Metabolism, Department of Paediatrics, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Cagnazzo+C%22">Cagnazzo C</searchLink>; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Zucchetti+G%22">Zucchetti G</searchLink>; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Proto+CF%22">Proto CF</searchLink>; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Gianasso+R%22">Gianasso R</searchLink>; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Biamino+E%22">Biamino E</searchLink>; Department of Paediatrics, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Carbonara+C%22">Carbonara C</searchLink>; Neonatal Intensive Care Unit, Sant'Anna Hospital, Città della Salute e della Scienza di Torino, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Coscia+A%22">Coscia A</searchLink>; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy.; Neonatal Unit, Sant'Anna Hospital, Città della Salute e della Scienza di Torino, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Parlato+C%22">Parlato C</searchLink>; Italian Institute for Genomic Medicine, Istituto di Ricovero e Cura a Carattere Scientifico, Candiolo, Italy.<br /><searchLink fieldCode="AU" term="%22Fenoglio+B%22">Fenoglio B</searchLink>; Italian Institute for Genomic Medicine, Istituto di Ricovero e Cura a Carattere Scientifico, Candiolo, Italy.<br /><searchLink fieldCode="AU" term="%22Guarrera+S%22">Guarrera S</searchLink>; Italian Institute for Genomic Medicine, Istituto di Ricovero e Cura a Carattere Scientifico, Candiolo, Italy.<br /><searchLink fieldCode="AU" term="%22Spada+M%22">Spada M</searchLink>; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy.; Department of Paediatrics, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Mussa+A%22">Mussa A</searchLink>; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy.; Paediatric Clinical Genetics Unit, Regina Margherita Children's Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Minucci+S%22">Minucci S</searchLink>; Italian Institute for Genomic Medicine, Istituto di Ricovero e Cura a Carattere Scientifico, Candiolo, Italy.<br /><searchLink fieldCode="AU" term="%22Fagioli+F%22">Fagioli F</searchLink>; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.; Department of Paediatric and Public Health Sciences, University of Turin, Turin, Italy.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101729235%22">JAMA network open</searchLink> [JAMA Netw Open] 2025 Oct 01; Vol. 8 (10), pp. e2538198. <i>Date of Electronic Publication: </i>2025 Oct 01.
– 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="%22American+Medical+Association%22">American Medical Association </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101729235 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2574-3805 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2225743805%22">25743805 </searchLink><i>NLM ISO Abbreviation: </i>JAMA Netw Open <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41105405
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1001/jamanetworkopen.2025.38198
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: e2538198
    Titles:
      – TitleFull: A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Carli D
      – PersonEntity:
          Name:
            NameFull: Quarello P
      – PersonEntity:
          Name:
            NameFull: Porta F
      – PersonEntity:
          Name:
            NameFull: Cagnazzo C
      – PersonEntity:
          Name:
            NameFull: Zucchetti G
      – PersonEntity:
          Name:
            NameFull: Proto CF
      – PersonEntity:
          Name:
            NameFull: Gianasso R
      – PersonEntity:
          Name:
            NameFull: Biamino E
      – PersonEntity:
          Name:
            NameFull: Carbonara C
      – PersonEntity:
          Name:
            NameFull: Coscia A
      – PersonEntity:
          Name:
            NameFull: Parlato C
      – PersonEntity:
          Name:
            NameFull: Fenoglio B
      – PersonEntity:
          Name:
            NameFull: Guarrera S
      – PersonEntity:
          Name:
            NameFull: Spada M
      – PersonEntity:
          Name:
            NameFull: Mussa A
      – PersonEntity:
          Name:
            NameFull: Minucci S
      – PersonEntity:
          Name:
            NameFull: Fagioli F
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: 2025 Oct 01
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 2574-3805
          Numbering:
            – Type: volume
              Value: 8
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: JAMA network open
              Type: main
ResultId 1