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Newborn Screening: Scientific Articles

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Featured Articles

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

  • Sorensen, P. L., Gane, L. W., Yarborough, M., Hagerman, R. J., & Tassone, F. (2013). Newborn screening and cascade testing for FMR1 mutations. American Journal of Medical Genetics, Part A, 161A, 59-69. PMID: 23239591.
  • Nelson, D. K., Skinner, D., Guarda, S., Choudhury, S., Sideris, J., Barnum, L., et al. (2013). Obtaining consent from both parents for pediatric research: what does “reasonably available” mean? Pediatrics, 131, e223-e229. PMID: 23266920.
  • Bailey, D. B. Jr., Bishop, E., Raspa, M., & Skinner, D. (2012). Caregiver opinions about fragile X population screening. Genetics in Medicine, 14, 115-121. PMID: 22237440.
  • Bain, L. C., Dudley, R. A., Gould, J. B., & Lee, H. C. (2012). Factors associated with failure to screen newborns for retinopathy of prematurity. Journal of Pediatrics, 161, 819-823. PMID: 22632876.
  • Dobrowolski, S. F., Pham, H. T., Downes, F. P., Prior, T. W., Naylor, E. W., & Swoboda, K. J. (2012). Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. Clinical Chemistry, 58, 1033-1039. PMID: 22490618.
  • Geng, X., Gouttard, S., Sharma, A., Gu, H., Styner, M., Lin, W., et al. (2012). Quantitative tract-based white matter development from birth to age 2 years. Neuroimage, 61, 542-557. PMID: 22510254.
  • Hamlin, A. A., Sukharev, D., Campos, L., Mu, Y., Tassone, F., Hessl, D., et al. (2012). Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). American Journal of Medical Genetics, Part A, 158A, 1304-1309. PMID: 22528549.
  • Mendell, J. R., Shilling, C., Leslie, N. D., Flanigan, K. M., al-Dahhak, R., Gastier-Foster, J., et al. (2012). Evidence-based path to newborn screening for Duchenne muscular dystrophy. Annals of Neurology, 71, 304-313. PMID: 22451200
  • Puck, J. M. (2012). Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. Journal of Allergy and Clinical Immunology, 129, 607-616. PMID: 22285280.
  • Ryckman. K. K., Cook, D. E., Berberich, S. L., Shchelochkov, O. A., Berends. S. K., Busch, T., et al. (2012). Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns. Journal of Pediatric Endocrinology & Metabolism, 25, 301-305. PMID: 22768660.
  • Salm, N., Yetter, E., & Tluczek, A. (2012). Informing parents about positive newborn screen results: parents' recommendations. Journal of Child Health Care, 16, 367-381. PMID: 22984167
  • Stephens, B. E., Bann, C. M., Watson, V. E., Sheinkopf, S. J., Peralta-Carcelen, M., Bodnar, A., et al. (2012). Screening for autism spectrum disorders in extremely preterm infants. Journal of Developmental and Behavioral Pediatrics, 33, 535-541. PMID: 22926660.
  • Tang, M., Facchiano, A., Rachamadugu, R., Calderon, F., Mao, R., Milanesi, L., et al. (2012). Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. Human Mutation, 33, 1107-1115. PMID: 22461411.
  • Tarini, B. A., & Goldenberg, A. J. (2012). Ethical issues with newborn screening in the genomics era. Annual Review of Genomics and Human Genetics, 13, 381-393. PMID: 22559326.
  • Therrell, B. L. Jr., Hannon, W. H., Bailey D. B. Jr., Goldman, E. B., Monaco, J., Norgaard-Pedersen, B., et al. (2011). Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening. Genetics in Medicine, 13, 621-624. PMID: 21602691.
  • Dickson, P. I, Pariser, A. R., Groft, S. C., Ishihara, R. W., McNeil, D. E., Tagle, D., et al. (2011). Research challenges in central nervous system manifestations of inborn errors of metabolism. Molecular Genetics and Metabolism, 102, 326-338. PMID: 21176882.
  • Kim, K. J., Pearl, P. L., Jensen, K., Snead, O. C., Malaspina, P., Jakobs, C., & Gibson, K. M. (2011). Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxidants & Redox Signaling, 15, 691-718. PMID: 20973619.
  • Dobrowolski, S. F., Andersen, H. S., Doktor, T. K., & Andresen, B. S. (2010). The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer. Molecular Genetics and Metabolism, 100, 316-323. PMID: 20457534.
  • Millington, D. S., Sista, R., Eckhardt, A., Rouse, J., Bali, D., Goldberg, R., et al. (2010). Digital microfluidics: A future technology in the newborn screening laboratory? Seminars in Perinatology, 34, 163-169. PMID: 20207266.
  • Sun, B., Li, S., Bird, A., & Koeberl, D. D. (2010). Hydrostatic isolated limb perfusion with adeno-associated virus vectors enhances correction of skeletal muscle in Pompe disease. Gene Therapy, 17, 1500-1505. PMID: 20686508.

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Last Reviewed: 04/12/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology