Last Posted: Aug 28, 2020
- 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)
- Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.
Farrell Michael H et al. The Journal of pediatrics 2020 Sep 22444-50.e1
- Extremely high birth prevalence of sickle cell disease in rural Tanzania.
Eastburg Luke et al. Pediatric blood & cancer 2020 Aug e28620
- Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Castaldo Alice et al. Diagnostics (Basel, Switzerland) 2020 Aug 10(8)