Scientific Articles on Newborn Screening

The following featured articles include those from NICHD researchers and NICHD-supported researchers.

  • Kubaski, F., Mason, R. W., Nakatomi, A., Shintaku, H., Xie, L., van Vlies, N. N., et al. (2017). Newborn screening for mucopolysaccharidoses: A pilot study of measurement of glycosaminoglycans by tandem mass spectrometry. Journal of Inherited Metabolic Disease, 40(1), 151–158. PMID: 27718145
  • Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., et al. (2016). 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. Molecular Genetics and Metabolism, 119(1-2), 75–82. PMID: 27477829
  • Berry, S. A., Leslie, N. D., Edick, M. J., Hiner, S., Justice, K., & Cameron, C. (2016). Inborn Errors of Metabolism Collaborative: Large-scale collection of data on long-term follow-up for newborn-screened conditions. Genetics in Medicine, 18(12), 1276–1281. PMID: 27195819
  • Botkin, J. R.,& Rothwell, E. (2016). Whole genome sequencing and newborn screening. Current Genetic Medicine Reports, 4(1), 1–6. PMID: 27134803
  • Burnham-Marusich, A. R., Ezeanolue, C. O., Obiefune, M. C., Yang, W., Osuji, A., Ogidi, A. G., et al. (2016). Prevalence of sickle cell trait and reliability of self-reported status among expectant parents in Nigeria: Implications for targeted newborn screening. Public Health Genomics, 19(5), 298–306. PMID: 27614873
  • Deem, M. J. (2016). An accessibility constraint on parental refusal of critical newborn screening. American Journal of Bioethics, 16(1), 24–26. PMID: 26734740
  • Ford, G. A., Denniston, S., Sesser, D., Skeels, M. R., & LaFranchi, S. H. (2016). Transient versus permanent congenital hypothyroidism after the age of 3 years in infants detected on the first versus second newborn screening test in Oregon, USA. Hormone Research in Paediatrics, 86(3), 169–177. PMID: 27595483
  • Jiang, X., Sidhu, R., Mydock-McGrane, L., Hsu, F. F., Covey, D. F., Scherrer, D. E., et al. (2016). Development of a bile acid-based newborn screen for Niemann-Pick disease type C. Science Translational Medicine, 8(337), 337ra63. PMID: 27147587
  • Kelly, N., Makarem, D. C., & Wasserstein, M. P. (2016). Screening of newborns for disorders with high benefit-risk ratios should be mandatory. Journal of Law, Medicine, & Ethics, 44(2), 231–240. PMID: 27338599
  • King, J. S., & Smith, M. E. (2016). Whole-genome screening of newborns? The constitutional boundaries of state newborn screening programs. Pediatrics, 137(Suppl 1), S8–15. PMID: 26729704
  • Lefterova, M. I., Shen, P., Odegaard, J. I., Fung, E., Chiang, T., Peng, G., et al. (2016). Next-generation molecular testing of newborn dried blood spots for cystic fibrosis. Journal of Molecular Diagnostics, 18(2), 267–282. PMID: 26847993
  • Mazzacuva, F., Mills, P., Mills, K., Camuzeaux, S., Gissen, P., Nicoli, E. R., et al. (2016). Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. FEBS Letters, 590(11), 1651–1662. PMID: 27139891
top of pageBACK TO TOP