Newborn Screening: Scientific Articles

Featured Articles

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

• 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.
• 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.
• 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 2years. 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.
• 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.
• 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.
• 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.
• 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.
• 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.

You can view a list of published research articles on newborn screening.

You can view a list of published research articles on phenylketonuria.

You can view a list of published research articles on galactosemia.