Newborn screening [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB




Last Posted: Sep 05, 2020

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• Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping
  C Trier et al, NPJ Genomic Medicine, September 3, 2020
• Metabolic Serendipities of Expanded Newborn Screening.
  Yahyaoui Raquel et al. Genes 2020 Aug 11(9)
• Cystic fibrosis newborn screening: the importance of bloodspot sample quality.
  Doull Iolo et al. Archives of disease in childhood 2020 Aug
• Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
  Roman Tamara S et al. American journal of human genetics 2020 Aug
• A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
  Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2)
• Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening.
  Allaf Bichr et al. Clinical chemistry and laboratory medicine 2020 Aug
• Cystic fibrosis in low and middle-income countries (LMIC): A view from four different regions of the world.
  da Silva Filho Luiz Vicente Ribeiro Ferreira et al. Paediatric respiratory reviews 2020 Jul
• Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
  Adhikari Aashish N et al. International journal of neonatal screening 2020 Jun 6(2)
• Highlights on Genomics Applications for Lysosomal Storage Diseases.
  La Cognata Valentina et al. Cells 2020 Aug 9(8)
• Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
  Speiser Phyllis W et al. International journal of neonatal screening 2020 Jun 6(2)

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