Edwin W Naylor

Title
InstitutionMedical University of South Carolina
DepartmentDevelopment Neurogenetics
Address
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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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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    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, Ibarra-Gonz?lez I, Fern?ndez-Lainez C, Guill?n-L?pez S, L?pez-Mej?a L, Belmont-Mat?nez 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.
      Citations:    
    2. Chung J, Smith AL, Hughes SC, Niizawa G, Abdel-Hamid HZ, Naylor EW, Hughes T, Clemens PR, 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.
      Citations:    
    3. Bhattacharjee A, Sokolsky T, Wyman SK, Reese MG, Puffenberger E, Strauss K, Morton H, Parad RB, Naylor EW, 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.
      Citations:    
    4. Wood MF, Hughes SC, Hache LP, Naylor EW, Abdel-Hamid HZ, Barmada MM, Dobrowolski SF, Stickler DE, Clemens PR, 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.
      Citations:    
    5. Foley TP, Henry JJ, Hofman LF, Thomas RD, Sanfilippo JS, Naylor EW, 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; PMCID: PMC3820125.
      Citations:    
    6. Dobrowolski SF, Pham HT, Downes FP, Prior TW, Naylor EW, Swoboda KJ, 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; PMCID: PMC4334578.
      Citations:    
    7. Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL, 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.
      Citations:    
    8. Dobrowolski SF, Borski K, Ellingson CC, Koch R, Levy HL, Naylor EW, 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.
      Citations:    
    9. Dobrowolski SF, Pey AL, Koch R, Levy H, Ellingson CC, Naylor EW, Martinez A, 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.
      Citations:    
    10. Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL, 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.
      Citations:    
    11. Lin Z, Fontaine JM, Freer DE, Naylor EW, 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.
      Citations:    
    12. Hofman LF, Foley TP, Henry JJ, Naylor EW, 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.
      Citations:    
    13. Lin Z, Suzow JG, Fontaine JM, Naylor EW, 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.
      Citations: 3     Fields:    Translation:HumansCells
    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, 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.
      Citations: 106     Fields:    Translation:HumansPHPublic Health
    15. Chace DH, Kalas TA, Naylor EW, 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.
      Citations: 148     Fields:    Translation:Humans
    16. Chace DH, Pons R, Chiriboga CA, McMahon DJ, Tein I, Naylor EW, De Vivo DC, 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.
      Citations: 14     Fields:    Translation:Humans
    17. Dobrowolski SF, Angeletti J, Banas RA, Naylor EW, 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.
      Citations: 8     Fields:    Translation:HumansCellsPHPublic Health
    18. Dobrowolski SF, Banas RA, Suzow JG, Berkley M, Naylor EW, 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; PMCID: PMC1907369.
      Citations: 5     Fields:    Translation:HumansCellsPHPublic Health
    19. Hofman LF, Foley TP, Henry JJ, Naylor EW, 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.
      Citations: 5     Fields:    Translation:HumansPHPublic Health
    20. Chace DH, Kalas TA, Naylor EW, 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.
      Citations: 37     Fields:    Translation:HumansPHPublic Health
    21. 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, 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; PMCID: PMC1226127.
      Citations: 65     Fields:    Translation:HumansCells
    22. Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW, 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.
      Citations: 52     Fields:    Translation:HumansCells
    23. Dobrowolski SF, Banas RA, Naylor EW, Powdrill T, Thakkar D, 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.
      Citations: 1     Fields:    Translation:HumansPHPublic Health
    24. Heath EM, O'Brien DP, Banas R, Naylor EW, Dobrowolski S, 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.
      Citations: 7     Fields:    Translation:HumansPHPublic Health
    25. Chace DH, DiPerna JC, Naylor EW, 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.
      Citations: 12     Fields:    Translation:HumansPHPublic Health
    26. Orr RK, Hoehn JL, Col NF, 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.
      Citations: 27     Fields:    Translation:HumansPHPublic Health
    27. Rovera GM, Sigurdsson L, Reyes J, Bouch LD, Naylor EW, Kocoshis SA, 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.
      Citations:    Fields:    Translation:Humans
    28. Rovera GM, Sigurdsson L, Reyes J, Bouch LD, Naylor E, Todo S, Kocoshis SA, 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.
      Citations:    Fields:    Translation:Humans
    29. Gibson KM, Bennett MJ, Naylor EW, Morton DH, 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.
      Citations: 15     Fields:    Translation:Humans
    30. Chace DH, Hillman SL, Van Hove JL, Naylor EW, 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.
      Citations: 47     Fields:    Translation:Humans
    31. Zimmerman PA, Hercules DM, Naylor EW, 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.
      Citations: 6     Fields:    Translation:HumansCellsPHPublic Health
    32. Kant JA, Mifflin TE, McGlennen R, Rice E, Naylor E, Cooper DL, 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.
      Citations:    Fields:    Translation:HumansCellsPHPublic Health
    33. Ziadeh R, Hoffman EP, Finegold DN, Hoop RC, Brackett JC, Strauss AW, Naylor EW, 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.
      Citations: 29     Fields:    Translation:HumansCells
    34. Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW, 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.
      Citations: 41     Fields:    Translation:HumansPHPublic Health
    35. Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD, 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; PMCID: PMC1682436.
      Citations: 16     Fields:    Translation:HumansCells
    36. Spence WC, Paulus-Thomas J, Orenstein DM, Naylor EW, 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.
      Citations: 8     Fields:    Translation:HumansPHPublic Health
    37. Naylor EW, Naylor EW. New technologies in newborn screening. Yale J Biol Med. 1991 Jan-Feb; 64(1):21-4. PMID: 1897257; PMCID: PMC2589456.
      Citations: 2     Fields:    Translation:HumansPHPublic Health
    38. Ferre J, Naylor EW, 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.
      Citations: 11     Fields:    Translation:HumansCells
    39. Naylor EW, Naylor EW. Recent developments in neonatal screening. Semin Perinatol. 1985 Apr; 9(3):232-49. PMID: 3832439.
      Citations: 2     Fields:    Translation:HumansPHPublic Health
    40. Orfanos AP, Naylor EW, 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.
      Citations: 9     Fields:    Translation:Humans
    41. Talbot HW, Sumlin AB, Naylor EW, Guthrie R, 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.
      Citations:    Fields:    Translation:HumansCellsPHPublic Health
    42. Orfanos AP, Naylor EW, Guthrie R, 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.
      Citations: 1     Fields:    Translation:Humans
    43. Talbot HW, Naylor EW, Guthrie R, 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.
      Citations:    Fields:    Translation:HumansCells
    44. Naylor EW, Naylor EW. Newborn screening for urea cycle disorders. Adv Exp Med Biol. 1982; 153:9-18. PMID: 6819767.
      Citations: 2     Fields:    Translation:HumansCellsPHPublic Health
    45. Garrick MD, Orfanos AP, Rogers L, Naylor EW, Guthrie R, 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.
      Citations: 1     Fields:    Translation:Humans
    46. Orfanos AP, Naylor EW, Guthrie R, 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.
      Citations: 1     Fields:    Translation:Humans
    47. Lee GJ, Evans JE, Tieckelmann H, Dulaney JT, Naylor EW, 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.
      Citations: 3     Fields:    Translation:HumansCells
    48. Orfanos AP, Naylor EW, Guthrie R, 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.
      Citations: 2     Fields:    Translation:HumansCells
    49. Orfanos AP, Naylor EW, Guthrie R, 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.
      Citations: 1     Fields:    Translation:HumansCells
    50. Naylor EW, Orfanos AP, Guthrie R, 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.
      Citations: 3     Fields:    Translation:HumansAnimalsPHPublic Health
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