Topical Collection "Feature Papers in Newborn Screening"


Collection Editor
SYNLAB MVZ Weiden GmbH, Newborn Screening, Zur Kesselschmiede 4, D-92637 Weiden, Germany
Interests: neonatal screening; process quality; knowledge scharing and education; new technologies in NBS; new applications in NBS; multiparameter analysis
Special Issues, Collections and Topics in MDPI journals
Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands
Interests: (neonatal screening in) Europe; (neonatal screening and) the Wilson and Jungner criteria; lysosomal storage diseases; application of next generation sequencing in neonatal screening; inherited errors of metabolism; tandem mass spectrometry; genomics; artificial intelligence in neonatal screening; cystic fibrosis; screening policies and governance; quality assurance
Special Issues, Collections and Topics in MDPI journals
1. Department of Pediatrics, Division of Human Genetics, Section of Biochemical Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
2. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
Special Issues, Collections and Topics in MDPI journals
Duke University Hospital Biochemical Genetics Lab, Durham, NC 27709, USA
Interests: tandem mass spectrometry; liquid chromatography-mass spectrometry; lysosomal storage disease biomarkers; digital microfluidic fluorometry; acylcarnitines; second-tier biochemical testing
Special Issues, Collections and Topics in MDPI journals

Collection Editor
1. National Newborn Metabolic Screening Programme, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand
2. Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening (programme audit, metrics, policy, definitions, guidelines, quality)
Special Issues, Collections and Topics in MDPI journals

Topical Collection Information

Dear Colleagues,

This Topical Collection will feature papers that are of exceptionally high quality and relevance for the readers of the International Journal of Neonatal Screening. They can either be written on invitation by the editors of this Topical Collection or received through the normal submission process and recognized as candidates to be included in the Topical Collection. Contributors may be from the ranks of the International Society for Neonatal Screening (ISNS) or from other fields of expertise. Suggestions for subjects and authors for papers for the Topical selection are welcomed by the editors of this Topical Collection.

Dr. Ralph Fingerhut
Dr. Peter C.J.I. Schielen
Prof. Dr. Can Ficicioglu
Prof. Dr. David S. Millington
Dr. Dianne Webster
Collection Editors

Manuscript Submission Information

Manuscripts should be submitted online at by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the collection website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers

This collection is now open for submission.
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