Skip to main content

You are here

Selected Publications

Newborn Screening Program

  • Kay DM, Langfelder-Schwind E, DeCelie-Germana J, Sharp JK, Maloney B, Tavakoli NP, Saavedra-Matiz CA, Krein LM, Caggana M. Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening. Pediatr Pulmonol. 2015;50(8):771-780.
  • Pubmed Web Address

  • Vogel BH, Bradley SE, Adams DJ, D’Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M. Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines. Mol Genet Metab. 2015;114(4):599-603.
  • Pubmed Web Address

  • Saavedra-Matiz CA, Isabelle JT, Biski CK, Duva SJ, Sweeney ML, Parker AL, Young AJ, DiAntonio LL, Krein LM, Nichols MJ, Caggana M. Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots. Clinical Chemistry. 2013;59(7):1045-1051.
  • Pubmed Web Address

  • Vogel B, Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, Parker A, Young A, Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M. Newborn Screening for SCID in New York State: Experience from the First Two Years. Journal of Clinical Immunology. 2014;34(3):289-303.
  • Pubmed Web Address

  • Orsini JJ, Martin MM, Showers AL, Bodamer OA, Zhang XK, Gelb MH, Caggana M. Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders. Clinica Chimica Acta. 2012;413(15-16):1270-1273.
  • Pubmed Web Address