The NBGENS project protocol: Pilot study for genetic newborn screening in Galicia

• Lluis Lis-López,

  Roles Data curation, Investigation, Methodology, Project administration, Writing – original draft

  Affiliation Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain

  https://orcid.org/0009-0007-6874-2480

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• Catalina López-López,

  Roles Data curation, Writing – review & editing

  Affiliation Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain

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• Laura López-Valverde,

  Roles Data curation, Writing – review & editing

  Affiliation Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain

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• Salomé Quintáns-Lago,

  Roles Methodology, Writing – review & editing

  Affiliation Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, RICORS-SAMID, Santiago de Compostela, Spain

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• Bruno K. Rodiño-Janeiro,

  Roles Data curation, Writing – review & editing

  Affiliation Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain

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• J. Víctor Álvarez,

  Roles Writing – review & editing

  Affiliations Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain, Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, RICORS-SAMID, Santiago de Compostela, Spain

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• Francisco Barros,

  Roles Formal analysis, Validation, Writing – review & editing

  Affiliation Xenomics Medicine Group, CIBERER, Galician Public Foundation of Xenomics Medicine - SERGAS, Santiago de Compostela, Spain

  https://orcid.org/0000-0001-6895-4140

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• Sofía Gouveia,

  Roles Conceptualization, Writing – review & editing

  Affiliation Bijvoet Centre for Biomolecular Research, Utrecht University, Tilburg, the Netherlands

  https://orcid.org/0000-0003-1431-4644

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• Mariana Serres-Gómez,

  Roles Formal analysis, Methodology, Writing – review & editing

  Affiliations Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain, Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, RICORS-SAMID, Santiago de Compostela, Spain

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• Judit García-Villoria ,

  Roles Conceptualization, Formal analysis, Investigation, Methodology, Validation, Writing – review & editing

  * E-mail: maria.eugenia.vazquez.mosquera@sergas.es (ME V-M); maria.luz.couce.pico@sergas.es (MLC); JUGARCIA@clinic.cat (J G-V)

  Affiliations Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Clinic de Barcelona, IDIBAPS, Barcelona, Spain, Center for biomedical network research on rare diseases (CIBERER), ISCIII, Madrid, Spain

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• María E. Vázquez-Mosquera ,

  Roles Conceptualization, Investigation, Writing – review & editing

  * E-mail: maria.eugenia.vazquez.mosquera@sergas.es (ME V-M); maria.luz.couce.pico@sergas.es (MLC); JUGARCIA@clinic.cat (J G-V)

  Affiliations Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain, Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, RICORS-SAMID, Santiago de Compostela, Spain

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• María Luz Couce

  Roles Conceptualization, Data curation, Funding acquisition, Investigation, Project administration, Supervision, Validation, Visualization, Writing – review & editing

  * E-mail: maria.eugenia.vazquez.mosquera@sergas.es (ME V-M); maria.luz.couce.pico@sergas.es (MLC); JUGARCIA@clinic.cat (J G-V)

  Affiliations Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain, Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, RICORS-SAMID, Santiago de Compostela, Spain

  https://orcid.org/0000-0003-4861-9905

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