European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.
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| Title: | European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework. |
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| Authors: | Fortunato F; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Department of Mother and Child, University Hospital S. Anna, Ferrara, Italy., Selvatici R; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Department of Mother and Child, University Hospital S. Anna, Ferrara, Italy., Kirschner J; Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Sansen S; Sanofi, Diegem, Belgium., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit & Research Unit of Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ottombrino S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit & Research Unit of Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bertini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit & Research Unit of Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit & Research Unit of Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Einhorn M; Genoox, Tel Aviv, Israel., Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain., Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain., Gut IG; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain., Pereira AM; Department of Endocrinology and Metabolism, Amsterdam UMC, Location University of Amsterdam, Amsterdam, Netherlands., Hiort O; Division of Pediatric Endocrinology and Diabetes, Department of Pediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany., Schaefer F; Center of Pediatric and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany., Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Université de Paris, Paris, France., Lohse AW; Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Wilde AAM; Department of Clinical Cardiology, Heart Center, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Bodemer C; Department of Dermatology, Necker Enfants Malades Hospital, AP-HP Center-Paris University, Paris, France., Jondeau G; Hospital Bichat-Claude Bernard, APHP, Université Paris Cité, Paris, France., Dollfus H; Institut de Génétique Médicale d'Alsace, University Hospital of Strasbourg and Strasbourg University, Strasbourg, France., Graessner H; Centre for Rare Diseases and Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Center, Rotterdam, Netherlands., L'khssim I; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Center, Rotterdam, Netherlands., Blay JY; Centre Léon Bérard, Université Claude Bernard Lyon I, and Center de Recherche en Cancérologie de Lyon, Lyon, France., Sangiorgi L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy., Fenaux P; Saint Louis Hospital, Paris Cité University, Paris, France., Mañú Pereira MDM; Group of Translational Research in Cancer and Blood disorders in Children, Rare Anemia Disorders Research Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain., Gutiérrez Valle V; Group of Translational Research in Cancer and Blood disorders in Children, Rare Anemia Disorders Research Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain., Mosca M; Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana and University of Pisa, Pisa, Italy., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Wijnen R; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Evangelista T; Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France., D'Angelo C; Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France., Wagner TOF; University Hospital Frankfurt, Frankfurt, Germany., Feitz WFJ; Department of Urology, Radboud University Medical Center Amalia Children's Hospital, Nijmegen, Netherlands., Ladenstein R; Department of Pediatrics, St. Anna Children's Hospital and St Anna Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria., Dobai Z; Department of Pediatrics, St. Anna Children's Hospital and St Anna Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria., Wulffraat N; Department of Pediatric Rheumatology and Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Ruperto N; UOC Reumatologia e Malattie Autoinfiammatorie, IRCCS Istituto G. Gaslini, Genova, Italy., Jara Vega P; Department of Pediatric Hepatology, La Paz University Hospital, Molecular Hepatology Group, La Paz Institute of Biomedical Research (IdiPAZ), Madrid, Spain., Bellettato CM; Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy., Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy., Onali M; ERN EURO-NMD Patient Advisory Board, Paris, France., Tchaicha S; Hospital Sant Joan de Déu, Barcelona, Spain., Arzimanoglou A; Hospital Sant Joan de Déu, Barcelona, Spain., Oh J; Department of Pediatric Nephrology, Medical University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lenz D; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Medical Faculty, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany., Tumiene B; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania., Zygmunt A; Pfizer Inc., Collegeville, Pennsylvania, PA, United States., Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Department of Mother and Child, University Hospital S. Anna, Ferrara, Italy. |
| Source: | Frontiers in public health [Front Public Health] 2026 Jun 10; Vol. 14, pp. 1822461. Date of Electronic Publication: 2026 Jun 10 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Internet ISSN: 2296-2565 (Electronic) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2296-2565 |
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| DOI: | 10.3389/fpubh.2026.1822461 |
