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
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
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
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
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