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International Journal of Neonatal Screening is a peer-reviewed journal published by MDPI, covering Metabolism and Genetic Disorders, Neonatal Health and Biochemistry, Genomics and Rare Diseases. Over its lifetime it has published 708 papers, which have received 8,860 citations.
| Publisher | MDPI |
|---|---|
| Reference style | Numbered (MDPI) Numbered — [1], [2] in the text 1. Smith, A.; Jones, B.; Lee, C. A Representative Article Title. International Journal of Neonatal Screening 2023, 12, 45–58.
Formats any DOI in International Journal of Neonatal Screening style. No sign-up. |
| Abbreviation (ISO-4) | Int. J. Neonatal Screen. |
| Publishes research in | Metabolism and Genetic Disorders Neonatal Health and Biochemistry Genomics and Rare Diseases Cystic Fibrosis Research Advances Neonatal Respiratory Health Research |
| ISSN | 2409-515X |
| Citation impact (2-yr) | 3.21 |
| h-index | 41 |
| i10-index | 277 |
| Article processing charge | $1,082 |
| Open access | Yes — indexed in DOAJ |
| Top institutions publishing here | Centers for Disease Control and Prevention |
| Journal website | www.mdpi.com |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder. Understanding the pathogenesis and…
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions using a single blood spot. The most recent…
) genes and are usually inherited in an autosomal recessive manner. The corresponding proteins form the adult hemoglobin molecule (HbA) which is a heterotetramer of two α and two β globin chains. Thalassemia-causing mutations lead to an imbalanced globin chain production and consecutively to impaired erythropoiesis. The severity of the disease is largely determined by…
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert "Bob" Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of…
Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for as long as four decades and has transformed the routine method for diagnosing this genetic disease and improved the quality and quantity of life for people with this potentially fatal disorder. Each region has typically undertaken CF NBS after analysis of…
