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

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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
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ISSN:2574-3805
DOI:10.1001/jamanetworkopen.2025.38198