Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy

• Jessica Bzdok ,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: j.bzdok@labor-becker.de

  Affiliations Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany, Laboratory Becker MVZ GbR, Munich, Germany

  https://orcid.org/0009-0006-7750-8808

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• Ludwig Czibere,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Laboratory Becker MVZ GbR, Munich, Germany

  https://orcid.org/0000-0002-7508-5841

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• Siegfried Burggraf,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Laboratory Becker MVZ GbR, Munich, Germany

  https://orcid.org/0000-0002-2116-0156

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• Olfert Landt,

  Roles Conceptualization, Methodology, Resources, Validation, Writing – review & editing

  Affiliation TIB Molbiol Syntheselabor GmbH, Berlin, Germany

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• Esther M. Maier,

  Roles Data curation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Laboratory Becker MVZ GbR, Munich, Germany

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• Wulf Röschinger,

  Roles Conceptualization, Data curation, Methodology, Supervision, Writing – review & editing

  Affiliation Laboratory Becker MVZ GbR, Munich, Germany

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• Michael H. Albert,

  Roles Data curation, Methodology, Supervision, Writing – original draft, Writing – review & editing

  Affiliation Department of Paediatrics, Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-Universität München, Munich, Germany

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• Sebastian Hegert,

  Roles Data curation, Formal analysis, Methodology, Writing – review & editing

  Affiliation Screening-Labor Hannover, Hanover, Germany

  https://orcid.org/0009-0000-1616-7540

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• Nils Janzen,

  Roles Data curation, Methodology, Supervision, Writing – review & editing

  Affiliations Screening-Labor Hannover, Hanover, Germany, Department of Clinical Chemistry, Hanover Medical School, Hanover, Germany, Division of Laboratory Medicine, Centre for Children and Adolescents, Kinder- und Jugendkrankenhaus Auf der Bult, Hanover, Germany

  https://orcid.org/0000-0002-2313-3311

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• Marc Becker,

  Roles Investigation, Resources, Supervision, Writing – review & editing

  Affiliations Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany, Laboratory Becker MVZ GbR, Munich, Germany

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• Jürgen Durner

  Roles Conceptualization, Investigation, Methodology, Resources, Supervision, Writing – review & editing

  Affiliations Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany, Laboratory Becker MVZ GbR, Munich, Germany

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