My Bibliography

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Caldarone B, Saavedra C, Tartaglia K, Wehner JM, Dudek BC, Flaherty L. Quantitative trait loci analysis affecting contextual conditioning in mice. Nat Genet. 1997 Nov;17(3):335-7. doi: 10.1038/ng1197-335. PubMed PMID: 9354801.

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Sjöberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, Sejersen T. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum Mol Genet. 1999 Nov;8(12):2191-8. doi: 10.1093/hmg/8.12.2191. PubMed PMID: 10545598.

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Saavedra-Matiz CA, Chapman NH, Wijsman EM, Horowitz SH, Rosen DR. Linkage of hereditary distal myopathy with desmin accumulation to 2q. Hum Hered. 2000 May-Jun;50(3):166-70. doi: 10.1159/000022908. PubMed PMID: 10686494.

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Gallego C, Saavedra-Matiz C, Gómez-Marín JE. Direct genotyping of animal and human isolates of Toxoplasma gondii from Colombia (South America). Acta Trop. 2006 Feb;97(2):161-7. doi: 10.1016/j.actatropica.2005.10.001. Epub 2005 Nov 28. PubMed PMID: 16310753.

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Nichols MJ, Saavedra-Matiz CA, Pass KA, Caggana M. Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. Am J Med Genet A. 2008 Mar 1;146A(5):610-9. doi: 10.1002/ajmg.a.32192. PubMed PMID: 18241067.

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Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M. Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Mol Genet Metab. 2010 Mar;99(3):263-8. doi: 10.1016/j.ymgme.2009.10.188. Epub 2009 Nov 1. PubMed PMID: 20036593.

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Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25. PubMed PMID: 22115770.

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Saavedra Matiz CA. La Secuenciacion de ADN. In: Gomez Marin JE, Gonzalez Marin A, Castano Osorio JC, Patarroyo Gutierrez MA, editors. Fundamentos Basicos de Medicina. Biologia Molecular: Principios y aplicaciones 1 ed. http://www.dinsamex.com/Ciencias-Biologicas/BIOLOGIA-MOLECULAR-PRINCIPIOS-Y-APLICACIONES.html, Medellin, Colombia: Corporacion para investigaciones biologicas; 2011. Chapter 38; p.401-407. 749p.

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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. Clin Chem. 2013 Jul;59(7):1045-51. doi: 10.1373/clinchem.2012.198945. Epub 2013 Mar 18. PubMed PMID: 23509109.

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Vogel BH, 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. J Clin Immunol. 2014 Apr;34(3):289-303. doi: 10.1007/s10875-014-0006-7. Epub 2014 Mar 1. PubMed PMID: 24578017; PubMed Central PMCID: PMC4090801.

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Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. PubMed PMID: 25138334; PubMed Central PMCID: PMC4492158.

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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 Apr;114(4):599-603. doi: 10.1016/j.ymgme.2015.02.002. Epub 2015 Feb 12. PubMed PMID: 25724074.

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Kay DM, Langfelder-Schwind E, DeCelie-Germana J, Sharp JK, Maloney B, Tavakoli NP, Saavedra-Matiz CA, Krein LM, Caggana M, Kier C, New York State Cystic Fibrosis Newborn Screening Consortium. Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening. Pediatr Pulmonol. 2015 Aug;50(8):771-80. doi: 10.1002/ppul.23222. Epub 2015 Jun 22. PubMed PMID: 26098992.

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Kay DM, Maloney B, Hamel R, Pearce M, DeMartino L, McMahon R, McGrath E, Krein L, Vogel B, Saavedra-Matiz CA, Caggana M, Tavakoli NP. Screening for cystic fibrosis in New York State: considerations for algorithm improvements. Eur J Pediatr. 2016 Feb;175(2):181-93. doi: 10.1007/s00431-015-2616-3. Epub 2015 Aug 21. PubMed PMID: 26293390.

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Hughes EE, Stevens CF, Saavedra-Matiz CA, Tavakoli NP, Krein LM, Parker A, Zhang Z, Maloney B, Vogel B, DeCelie-Germana J, Kier C, Anbar RD, Berdella MN, Comber PG, Dozor AJ, Goetz DM, Guida L Jr, Kattan M, Ting A, Voter KZ, New York State Cystic Fibrosis Newborn Screening Consortium, van Roey P, Caggana M, Kay DM. Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population. Hum Mutat. 2016 Feb;37(2):201-8. doi: 10.1002/humu.22927. Epub 2015 Dec 2. PubMed PMID: 26538069.

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Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M, New York State Krabbe Disease Consortium. Newborn screening for Krabbe disease in New York State: the first eight years' experience. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. PubMed PMID: 26795590.

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Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M. Newborn screening for Krabbe's disease. J Neurosci Res. 2016 Nov;94(11):1063-75. doi: 10.1002/jnr.23781. Review. PubMed PMID: 27638592; PubMed Central PMCID: PMC5328187.

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Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA. Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. J Neurosci Res. 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905. PubMed PMID: 27638593.

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Marshall MS, Jakubauskas B, Bogue W, Stoskute M, Hauck Z, Rue E, Nichols M, DiAntonio LL, van Breemen RB, Kordower JH, Saavedra-Matiz CA, Bongarzone ER. Analysis of age-related changes in psychosine metabolism in the human brain. PLoS One. 2018;13(2):e0193438. doi: 10.1371/journal.pone.0193438. eCollection 2018. PubMed PMID: 29481565; PubMed Central PMCID: PMC5826537.

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Beltran-Quintero ML, Bascou NA, Poe MD, Wenger DA, Saavedra-Matiz CA, Nichols MJ, Escolar ML. Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months. Orphanet J Rare Dis. 2019 Feb 18;14(1):46. doi: 10.1186/s13023-019-1018-4. PubMed PMID: 30777126; PubMed Central PMCID: PMC6378723.

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Gans MD, Saavedra-Matiz CA, Bernstein L. A single nucleotide polymorphism in the T-cell receptor excision circle. J Allergy Clin Immunol Pract. 2020 Feb;8(2):803-805.e1. doi: 10.1016/j.jaip.2019.08.014. Epub 2019 Aug 17. PubMed PMID: 31430593.

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Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, Delfiner L, Sakonju A, Caggana M. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genet Med. 2020 Aug;22(8):1296-1302. doi: 10.1038/s41436-020-0824-3. Epub 2020 May 18. PubMed PMID: 32418989.

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Corre CS, Matern D, Pellegrino JE, Saavedra-Matiz CA, Orsini JJ, Thompson-Stone R. Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report. Int J Neonatal Screen. 2021 May 28;7(2). doi: 10.3390/ijns7020028. PubMed PMID: 34071213; PubMed Central PMCID: PMC8162352.

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Sicko RJ, Stevens CF, Hughes EE, Leisner M, Ling H, Saavedra-Matiz CA, Caggana M, Kay DM. Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening. Int J Neonatal Screen. 2021 Nov 2;7(4). doi: 10.3390/ijns7040073. PubMed PMID: 34842611; PubMed Central PMCID: PMC8628990.

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Lee BH, Deng S, Chiriboga CA, Kay DM, Irumudomon O, Laureta E, Delfiner L, Treidler SO, Anziska Y, Sakonju A, Kois C, Farooq O, Engelstad K, Laurenzano A, Hogan K, Caggana M, Saavedra-Matiz CA, Stevens CF, Ciafaloni E. Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years. Neurology. 2022 Oct 3;99(14):e1527-e1537. doi: 10.1212/WNL.0000000000200986. PubMed PMID: 35835557; PubMed Central PMCID: PMC9576300.