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Edwin W Naylor

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InstitutionMedical University of South Carolina
DepartmentDevelopment Neurogenetics
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Ibarra-González I, Fernández-Lainez C, Guillén-López S, López-Mejía L, Belmont-Matínez L, Sokolsky TD, Amin VR, Kitchener RL, Vela-Amieva M, Naylor EW, Bhattacharjee A. Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia. Clin Chim Acta. 2020 Feb; 501:216-221. PMID: 31707166.
      View in: PubMed
    2. Chung J, Smith AL, Hughes SC, Niizawa G, Abdel-Hamid HZ, Naylor EW, Hughes T, Clemens PR. Twenty-year follow-up of newborn screening for patients with muscular dystrophy. Muscle Nerve. 2016 Apr; 53(4):570-8. PMID: 26260293.
      View in: PubMed
    3. Bhattacharjee A, Sokolsky T, Wyman SK, Reese MG, Puffenberger E, Strauss K, Morton H, Parad RB, Naylor EW. Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. Genet Med. 2015 May; 17(5):337-47. PMID: 25255367.
      View in: PubMed
    4. Wood MF, Hughes SC, Hache LP, Naylor EW, Abdel-Hamid HZ, Barmada MM, Dobrowolski SF, Stickler DE, Clemens PR. Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. Muscle Nerve. 2014 Jun; 49(6):822-8. PMID: 24307279.
      View in: PubMed
    5. Foley TP, Henry JJ, Hofman LF, Thomas RD, Sanfilippo JS, Naylor EW. Maternal screening for hypothyroidism and thyroiditis using filter paper specimens. J Womens Health (Larchmt). 2013 Nov; 22(11):991-6. PMID: 24025107.
      View in: PubMed
    6. Dobrowolski SF, Pham HT, Downes FP, Prior TW, Naylor EW, Swoboda KJ. Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. Clin Chem. 2012 Jun; 58(6):1033-9. PMID: 22490618.
      View in: PubMed
    7. Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9. PMID: 20580581.
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    8. Dobrowolski SF, Borski K, Ellingson CC, Koch R, Levy HL, Naylor EW. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. J Hum Genet. 2009 Jun; 54(6):335-9. PMID: 19444284.
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    9. Dobrowolski SF, Pey AL, Koch R, Levy H, Ellingson CC, Naylor EW, Martinez A. Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. J Inherit Metab Dis. 2009 Feb; 32(1):10-21. PMID: 18937047.
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    10. Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL. Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Mol Genet Metab. 2007 Jul; 91(3):218-27. PMID: 17502162.
      View in: PubMed
    11. Lin Z, Fontaine JM, Freer DE, Naylor EW. Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):212-9. PMID: 15996498.
      View in: PubMed
    12. Hofman LF, Foley TP, Henry JJ, Naylor EW. The use of filter paper-dried blood spots for thyroid-antibody screening in adults. J Lab Clin Med. 2004 Dec; 144(6):307-12. PMID: 15614253.
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    13. Lin Z, Suzow JG, Fontaine JM, Naylor EW. A high throughput beta-globin genotyping method by multiplexed melting temperature analysis. Mol Genet Metab. 2004 Mar; 81(3):237-43. PMID: 14972330.
      View in: PubMed
    14. Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72. PMID: 14625333.
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    15. Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003 Nov; 49(11):1797-817. PMID: 14578311.
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    16. Chace DH, Pons R, Chiriboga CA, McMahon DJ, Tein I, Naylor EW, De Vivo DC. Neonatal blood carnitine concentrations: normative data by electrospray tandem mass spectometry. Pediatr Res. 2003 May; 53(5):823-9. PMID: 12612202.
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    17. Dobrowolski SF, Angeletti J, Banas RA, Naylor EW. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Mol Genet Metab. 2003 Feb; 78(2):100-7. PMID: 12618081.
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    18. Dobrowolski SF, Banas RA, Suzow JG, Berkley M, Naylor EW. Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. J Mol Diagn. 2003 Feb; 5(1):42-7. PMID: 12552079.
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    19. Hofman LF, Foley TP, Henry JJ, Naylor EW. Assays for thyroid-stimulating hormone using dried blood spotted filter paper specimens to screen for hypothyroidism in older children and adults. J Med Screen. 2003; 10(1):5-10. PMID: 12790308.
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    20. Wasant P, Matsumoto I, Naylor E, Liammongkolkul S. Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases. J Med Assoc Thai. 2002 Aug; 85 Suppl 2:S710-9. PMID: 12403251.
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    21. Chace DH, Kalas TA, Naylor EW. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002; 3:17-45. PMID: 12142359.
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    22. Chace DH, DiPerna JC, Kalas TA, Johnson RW, Naylor EW. Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem. 2001 Nov; 47(11):2040-4. PMID: 11673377.
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    23. Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet. 2001 Jun; 68(6):1408-18. PMID: 11349232.
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    24. Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem. 2001; 47(7):1166-82. PMID: 11427446.
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    25. Dobrowolski SF, Banas RA, Naylor EW, Powdrill T, Thakkar D. DNA microarray technology for neonatal screening. Acta Paediatr Suppl. 1999 Dec; 88(432):61-4. PMID: 10626582.
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    26. Heath EM, O'Brien DP, Banas R, Naylor EW, Dobrowolski S. Optimization of an automated DNA purification protocol for neonatal screening. Arch Pathol Lab Med. 1999 Dec; 123(12):1154-60. PMID: 10583919.
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    27. Chace DH, DiPerna JC, Naylor EW. Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl. 1999 Dec; 88(432):45-7. PMID: 10626577.
      View in: PubMed
    28. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999 Nov; 14 Suppl 1:S4-8. PMID: 10593560.
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    29. Rovera GM, Sigurdsson L, Reyes J, Bouch LD, Naylor EW, Kocoshis SA. Immunoreactive trypsinogen levels in pediatric patients with intestinal failure awaiting intestinal transplantation. Clin Transplant. 1999 Oct; 13(5):395-9. PMID: 10515220.
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    30. Wasant P, Svasti J, Srisomsap C, Liammongkolkul S, Naylor EW, Matsumoto I. Inherited metabolic disorders in Thailand--Siriraj experience. Southeast Asian J Trop Med Public Health. 1999; 30 Suppl 2:124-37. PMID: 11400749.
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    31. Wasant P, Naylor EW, Liammongkolkul S. Detection of inherited metabolic disorders via tandem mass spectrometry in Thai infants. Southeast Asian J Trop Med Public Health. 1999; 30 Suppl 2:154-9. PMID: 11400758.
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    32. Rovera GM, Sigurdsson L, Reyes J, Bouch LD, Naylor E, Todo S, Kocoshis SA. Elevated immunoreactive trypsinogen levels in pediatric patients with short bowel syndrome. Transplant Proc. 1998 Sep; 30(6):2549-50. PMID: 9745483.
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    33. Gibson KM, Bennett MJ, Naylor EW, Morton DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr. 1998 Mar; 132(3 Pt 1):519-23. PMID: 9544913.
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    34. Chace DH, Hillman SL, Van Hove JL, Naylor EW. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem. 1997 Nov; 43(11):2106-13. PMID: 9365395.
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    35. Zimmerman PA, Hercules DM, Naylor EW. Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry. Am J Med Genet. 1997 Jan 31; 68(3):300-4. PMID: 9024563.
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    36. Kant JA, Mifflin TE, McGlennen R, Rice E, Naylor E, Cooper DL. Molecular diagnosis of cystic fibrosis. Clin Lab Med. 1995 Dec; 15(4):877-98. PMID: 8838228.
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    37. Ziadeh R, Hoffman EP, Finegold DN, Hoop RC, Brackett JC, Strauss AW, Naylor EW. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res. 1995 May; 37(5):675-8. PMID: 7603790.
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    38. Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem. 1995 Jan; 41(1):62-8. PMID: 7813082.
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    39. Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD. Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. 1993 Sep; 53(3):768-74. PMID: 8352282.
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    40. Spence WC, Paulus-Thomas J, Orenstein DM, Naylor EW. Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity. Biochem Med Metab Biol. 1993 Apr; 49(2):200-11. PMID: 7683477.
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    41. Naylor EW. New technologies in newborn screening. Yale J Biol Med. 1991 Jan-Feb; 64(1):21-4. PMID: 1897257.
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    42. Ferre J, Naylor EW. Sepiapterin reductase in human amniotic and skin fibroblasts, chorionic villi, and various blood fractions. Clin Chim Acta. 1988 Jun 15; 174(3):271-82. PMID: 3292089.
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    43. Naylor EW. Recent developments in neonatal screening. Semin Perinatol. 1985 Apr; 9(3):232-49. PMID: 3832439.
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    44. Orfanos AP, Naylor EW. A rapid screening test for Duchenne muscular dystrophy using dried blood specimens. Clin Chim Acta. 1984 Apr 27; 138(3):267-74. PMID: 6723063.
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    45. Talbot HW, Sumlin AB, Naylor EW, Guthrie R. A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders. Pediatrics. 1982 Oct; 70(4):526-31. PMID: 7122151.
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    46. Orfanos AP, Naylor EW, Guthrie R. Screening test for alpha 1-antitrypsin in dried-blood specimens. Clin Chem. 1982 Apr; 28(4 Pt 1):615-7. PMID: 6978775.
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    47. Talbot HW, Naylor EW, Guthrie R. Neonatal urine screening for metabolic disease with auxotrophic strains of Bacillus subtilis. Clin Chim Acta. 1982 Mar 12; 119(3):345-9. PMID: 6802522.
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    48. Naylor EW. Newborn screening for urea cycle disorders. Adv Exp Med Biol. 1982; 153:9-18. PMID: 6819767.
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    49. Garrick MD, Orfanos AP, Rogers L, Naylor EW, Guthrie R. A simple screening test for reduced glutathione in filter paper spots of blood. J Pediatr. 1981 Feb; 98(2):265-7. PMID: 7463226.
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    50. Orfanos AP, Naylor EW, Guthrie R. Fluorometric micromethod for determination of arginase activity in dried blood spots on filter paper. Clin Chem. 1980 Jul; 26(8):1198-200. PMID: 7389092.
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    51. Lee GJ, Evans JE, Tieckelmann H, Dulaney JT, Naylor EW. Enzymatic studies of urinary isomeric chondroitin sulfates from patients with mucopolysaccharidoses. The application of high performance liquid chromatography. Clin Chim Acta. 1980 May 21; 104(1):65-75. PMID: 6771063.
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    52. Orfanos AP, Naylor EW, Guthrie R. Ultramicromethod for estimation of total glutathione in dried blood spots on filter paper. Anal Biochem. 1980 May 01; 104(1):70-4. PMID: 7386883.
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    53. Orfanos AP, Naylor EW, Guthrie R. Micromethod for estimating adenosine deaminase activity in dried blood spots on filter paper. Clin Chem. 1978 Apr; 24(4):591-4. PMID: 639264.
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    54. Naylor EW, Orfanos AP, Guthrie R. A simple screening test for arginase deficiency (hyperargininemia). J Lab Clin Med. 1977 Apr; 89(4):876-80. PMID: 845487.
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