Publications

  1. Renda MM, Voigt RG, Babovic-Vuksanovic D, Highsmith WE, Vinson SS, Sadowski CM, Hagerman RJ. Neurodevelopmental disabilities in children with intermediate and premutation range fragile x Cytosine-Guanine-Guanine expansions. J Child Neurol. 2014 Mar; 29(3):326-30. Epub 2012 Dec 23.
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  2. Reddi HV, Jenkins S, Theis J, Thomas BC, Connors LH, Van Rhee F, Highsmith WE Jr. Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life. J Mol Diagn. 2014 Jan; 16(1):68-74. Epub 2013 Oct 30
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  3. Dasari S, Theis JD, Vrana JA, Zenka RM, Zimmermann MT, Kocher JP, Highsmith WE Jr, Kurtin PJ, Dogan A. Clinical Proteome Informatics Workbench Detects Pathogenic Mutations in Hereditary Amyloidoses. J Proteome Res. 2014; 13(5). Epub 2014 Apr 3
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  4. Renda MM, Voigt RG, Babovic-Vuksanovic D, Highsmith WE, Vinson SS, Sadowski CM, Hagerman RJ. Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions. J Child Neurol. 2014; 29(3):326-30.
  5. Grosu DS, Hague L, Chelliserry M, Kruglyak KM, Lenta R, Klotzle B, San J, Goldstein WM, Moturi S, Devers P, Woolworth J, Peters E, Elashoff B, Stoerker J, Wolff DJ, Friedman KJ, Highsmith WE, Lin E, Ong FS. Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing. Expert Rev Mol Diagn. 2014; 14(5):605-22.
  6. Reddi HV, Thomas BC, Willkomm KS, Ferber MJ, Rumilla KM, Raymond KM, O'Brien JF, Highsmith WE. Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic. J Genet. 2013 Dec; 92(3):599-604.
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  7. Voss JS, Holtegaard LM, Kerr SE, Fritcher EG, Roberts LR, Gores GJ, Zhang J, Highsmith WE, Halling KC, Kipp BR. Molecular profiling of cholangiocarcinoma shows potential for targeted therapy treatment decisions. Hum Pathol. 2013 Jul; 44(7):1216-22. Epub 2013 Feb 04.
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  8. Rezania K, Pytel P, Smit LJ, Mastrianni J, Dina MA, Highsmith WE, Dogan A. Systemic transthyretin amyloidosis in a patient with bent spine syndrome. Amyloid. 2013 Jun; 20(2):131-4. Epub 2013 May 02.
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  9. Kipp BR, Voss JS, Kerr SE, Barr Fritcher EG, Graham RP, Zhang L, Highsmith WE, Zhang J, Roberts LR, Gores GJ, Halling KC. Isocitrate dehydrogenase 1 and 2 mutations in cholangiocarcinoma. Hum Pathol. 2012 Oct; 43(10):1552-8. Epub 2012 Apr 12.
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  10. Kerr SE, Schnabel CA, Sullivan PS, Zhang Y, Singh V, Carey B, Erlander MG, Highsmith WE, Dry SM, Brachtel EF. Multisite validation study to determine performance characteristics of a 92-gene molecular cancer classifier. Clin Cancer Res. 2012 Jul 15; 18(14):3952-60. Epub 2012 May 30.
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  11. Medeiros F, Lindor NM, Couch FJ, Highsmith WE Jr. The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors. J Mol Diagn. 2012 May-Jun; 14(3):264-73. Epub 2012 Mar 13.
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  12. Wieben ED, Aleff RA, Tosakulwong N, Butz ML, Highsmith WE, Edwards AO, Baratz KH. A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. PLoS One. 2012; 7(11):e49083. Epub 2012 Nov 21.
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  13. Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DB. Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human alpha-globin gene cluster. J Mol Diagn. 2011 Sep; 13(5):549-57. Epub 2011 Jun 25.
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  14. Moyer TP, Highsmith WE, Smyrk TC, Gross JB Jr. Hereditary hemochromatosis: laboratory evaluation. Clin Chim Acta. 2011 Aug 17; 412(17-18):1485-92. Epub 2011 Apr 13.
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  15. Marlow LA, D'Innocenzi J, Zhang Y, Rohl SD, Cooper SJ, Sebo T, Grant C, McIver B, Kasperbauer JL, Wadsworth JT, Casler JD, Kennedy PW, Highsmith WE, Clark O, Milosevic D, Netzel B, Cradic K, Arora S, Beaudry C, Grebe SK, Silverberg ML, Azorsa DO, Detailed molecular fingerprinting of four new anaplastic thyroid carcinoma cell lines and their use for verification of RhoB as a molecular therapeutic target. J Clin Endocrinol Metab. 2010 Dec; 95(12):5338-47. Epub 2010 Sep 01.
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  16. Farkas DH, Miltgen NE, Stoerker J, van den Boom D, Highsmith WE, Cagasan L, McCullough R, Mueller R, Tang L, Tynan J, Tate C, Bombard A. The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model. J Mol Diagn. 2010 Sep; 12(5):611-9. Epub 2010 Jul 08.
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  17. Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab. 2010 Jul; 100(3):241-50. Epub 2010 Apr 08.
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  18. McWilliams RR, Petersen GM, Rabe KG, Holtegaard LM, Lynch PJ, Bishop MD, Highsmith WE Jr. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma. Cancer. 2010 Jan 1; 116(1):203-9.
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  19. Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K. Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. J Mol Diagn. 2009 Nov; 11(6):530-6. Epub 2009 Oct 08.
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  20. Pratt VM, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV. Development of genomic reference materials for cystic fibrosis genetic testing. J Mol Diagn. 2009 May; 11(3):186-93. Epub 2009 Apr 09.
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  21. Bartels CL, Marchetti AL, Highsmith WE, Tsongalis GJ. Real time PCR detection of the PI"Z and PI"S mutations associated with alpha-1 antitrypsin deficiency. Amer. J. Transl. Res. 2009; 1(4):406-11.
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  22. Amos Wilson J, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WE Jr, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa Consensus characterization of 16 FMR1 reference materials: a consortium study. J Mol Diagn. 2008 Jan; 10(1):2-12. Epub 2007 Dec 28.
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  23. Patkar KA, Highsmith WE, Aldrich JV. Solid phase and solution synthesis of NvocLys [CO(CH2)(5NH)NBD] OCH2(CN), a trifunctional fluorescent lysine derivative. Amino Acids. 2008:epub.
  24. Pulido JS, Peterson LM, Mutapcic L, Bryant S, Highsmith WE. LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic. Ophthalmic Genet. 2007 Dec; 28(4):203-7.
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  25. Highsmith WE Jr, Meyer KJ, Marley VM, Jenkins RB. Conversion Technology for the separation of maternal and paternal copies of any autosomal chromosome in somatic cell hybrids. Curr Protoc Hum Genet. 2007 Oct; Chapter 3:Unit 3.6.
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  26. Baudhuin LM, Highsmith WE, Skierka J, Holtegaard L, Moore BE, O'Kane DJ. Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism. Clin Biochem. 2007 Jun; 40(9-10):710-7. Epub 2007 Mar 23.
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  27. Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT. RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis. J Mol Diagn. 2007 Apr; 9(2):184-96.
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  28. Pulido JS, McConnell JP, Lennon RJ, Bryant SC, Peterson LM, Berger PB, Somers V, Highsmith WE. Relationship between age-related macular degeneration-associated variants of complement factor H and LOC387715 with coronary artery disease. Mayo Clin Proc. 2007 Mar; 82(3):301-7.
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  29. Jacob EK, Edwards WD, Zucker M, D'Cruz C, Seshan SV, Crow FW, Highsmith WE. Homozygous transthyretin mutation in an African American Male. J Mol Diagn. 2007 Feb; 9(1):127-31.
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  30. Kitzmann AS, Pulido JS, Ferber MJ, Highsmith WE, Babovic-Vuksanovic D. A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma. Ophthalmic Genet. 2006 Dec; 27(4):157-9.
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  31. Uphoff TS, Highsmith WE Jr. Introduction to molecular cystic fibrosis testing. Clin Lab Sci. 2006 Winter; 19(1):24-31.
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  32. Snyder MR, Katzmann JA, Butz ML, Wiley C, Yang P, Dawson DB, Halling KC, Highsmith WE, Thibodeau SN. Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping. Clin Chem. 2006 Dec; 52(12):2236-42. Epub 2006 Oct 19.
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  33. Coffee B, Muralidharan K, Highsmith WE Jr, Lapunzina P, Warren ST. Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction. Genet Med. 2006 Oct; 8(10):628-34.
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  34. Baudhuin LM, Roberts LR, Enders FT, Swanson RL, Mettler TA, Aderca I, Stadheim LM, Highsmith WE. MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients. J Cancer Res Clin Oncol. 2006 Mar; 132(3):159-62. Epub 2005 Nov 15.
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  35. Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT. Mutation scanning of the RET protooncogene using high-resolution melting analysis. Clin Chem. 2006 Jan; 52(1):138-41.
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  36. Cook RJ, Hoyer JD, Highsmith WE. Quintuple alpha-globin gene: a novel allele in a Sudanese man. Hemoglobin. 2006; 30(1):51-5.
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  37. Abruzzo LV, Wang J, Kapoor M, Medeiros LJ, Keating MJ, Highsmith WE, Barron LL, Cromwell CC, Coombes KR. Biological validation of differentially expressed genes in chronic lymphocytic leukemia identified by applying multiple statistical methods to oligonucleotide microarrays. J Mol Diagn. 2005 Aug; 7(3):337-45.
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  38. Barletta JM, Edelman DC, Highsmith WE, Constantine NT. Detection of ultra-low levels of pathologic prion protein in scrapie infected hamster brain homogenates using real-time immuno-PCR. Journal of Virological Methods. 2005 Aug; 127(2):154-64.
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  39. Ahmed SA, Snow-Bailey K, Highsmith WE, Sun W, Fenwick RG, Mao R. Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases. J Mol Diagn. 2005 May; 7(2):283-8.
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  40. Buch JS, Rosenberger F, Highsmith WE, Kimball C, DeVoe DL, Lee CS. Denaturing gradient-based two-dimensional gene mutation scanning in a polymer microfluidic network. Lab on a Chip. 2005; 5(4):392-400.
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  41. Wang J, Coombes KR, Highsmith WE, Keating MJ, Abruzzo LV. Differences in gene expression between B-cell chronic lymphocytic leukemia and normal B cells: a meta-analysis of three microarray studies. Bioinformatics. 2004 Nov 22; 20(17):3166-78.
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  42. Buch JS, Kimball C, Rosenberger F, Highsmith WE, DeVoe DL, Lee CS. DNA mutation detection in a polymer microfluidic network using temperature gradient gel electrophoresis. Anal Chem. 2004 Feb 15; 76(4):874-81.
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  43. Atha DH, Miller K, Xu J, Hess JL, Wu OC, Highsmith WE. High-throughput analysis of telomerase by capillary electrophoresis. Electrophoresis. 2003; 24:109-114.
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  44. Coombes KR, Highsmith WE, Krogmann TA, Baggerly KA, Stivers DN, Abruzzo LV. Identifying and quantifying sources of variation in microarray data using high-density cDNA membrane arrays. J Comput Biol. 2002;9:655-69.
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  45. Doyle LA, Highsmith WE. Telomerase as a Diagnostic and Therapeutic Target. Expert review in anticancer therapy. 2002;2:217-225.
  46. Karp JE, Lancet JE, Kaufmann SH, End DW, Wright JJ, Bol K, Horak I, Tidwell ML, Liesveld J, Kottke TJ, Ange D, Buddharaju L, Gojo I, Highsmith WE, Belly RT, Hohl RJ, Rybak ME, Thibault A, Rosenblatt J. Clinical and biologic activity of the farnesyltransferase inhibitor R115777 in adults with refractory and relapsed acute leukemias: a phase 1 clinical-laboratory correlative trial. Blood. 2001 Jun 1; 97(11):3361-9.
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  47. Ramdas L, Coombes KR, Baggerly K, Abruzzo L, Highsmith WE, Krogmann T, Hamilton SR, Zhang W. Sources of nonlinearity in cDNA microarray expression measurements. Genome Biol. 2001; 2(11):RESEARCH0047. Epub 2001 Oct 18.
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  48. King J, Treanor J, Fast P, Wolf M, Iacuzio M, Highsmith W, et al. Comparison of the safety, vaccine virus shedding, and immunogenicity of influenza virus vaccine, trivalent, types A & B, live cold-adapted, administered to HIV-infected and non-HIV-infected adults. J Infect Dis. 2000;181:725-8.
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  49. Nataraj AJ, Olivos-Glander I, Kusukawa1 N, Highsmith WE. SSCP and heteroduplex analysis for gel based mutation detection. Electrophoresis. 1999;20:1177-1185.
  50. Highsmith WE, Nataraj AJ, Jin Q, O'Connor JM, El-Nabi SH, Kusukawa N, Garner MM. Use of DNA toolbox for the characterization of mutation scanning methods. II: evaluation of single-strand conformation polymorphism analysis. Electrophoresis. 1999;20:1195-203.
  51. Highsmith WE, Jin Q, Nataraj AJ, O’Conner JM, Burland VD, Baubonis WH, et al. Use of a DNA toolbox for the characterization of mutation scanning methods - construction of the toolbox and evaluation of heteroduplex analysis. Electrophoresis. 1999;20:1186-94.
  52. Stroval J, Abruzzo L, Highsmith WE, Stamberg J. Quantitative measurement of telomerase activity in lymphadenopathy: correlation with histologic features and human immunodeficiency virus-1 infection. Mod Pathol. 1998;11:957-62.
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  53. Hsu I, Highsmith WE, Xu J, Kong D. Mismatch cleavage detects base deletion in cystic fibrosis gene. BioTechniques. 1998;25:692-696.
  54. Abdel-Hamid M, Edelman DC, Highsmith WE, Constantine NT. Optimization, assessment, and proposed use of a direct nested RT-PCR protocol for the increased detection of hepatitis C virus. Hum Virology. 1997;1:58-65.
  55. Highsmith WE, Strong T, Smith T, Silverman LM, Collins FS, Boucher R, Knowles MR. A splice site mutation in the CFTR gene from a consanguineous family with mild cystic fibrosis. Hum Mutat. 1997;9:332-338.
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  56. Stoerker J, Hurwitz C, Rose N, Highsmith WE. Heteroduplex analysis for prenatal blood group analysis. Clin Chem. 1996;42: 356-360.
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  57. Lench NJ, Athma P, Ottaiano A, Sribney WM, Highsmith WE, Swift M. The DNA marker D11S384 shows zero recombination with the ataxia-telangiectasia locus in North American families. Intl J Radiat Biol. 1995;66(Suppl6):S67-9.
  58. Prior TW, Demmler G, Papp AC, Synder PJ, Highsmith WE. Rapid haplotyping by heteroduplex analysis. Hum Mutat. 1995;5:263-268.
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  59. Friedman KJ, Teichtahl H, de Krester DM, Temple-Smith P, Southwick GJ, Silverman LM, Highsmith WE, et al. Screening Young syndrome patients for CFTR mutations. Am J Pulm Crit Care Med. 1995;152:1353-1357.
  60. Highsmith WE, Burch L, Boat TE, Spock A, Gorvoy J, Quittell L, et al. A novel cystic fibrosis gene mutation is common in patients with normal sweat chloride values. N Engl J Med. 1994;331:974-80.
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  61. Kiesewetter S, Macek M, Curristan SM, Chu CS, Trapnell BC, Highsmith WE, et al. A mutation in the cystic fibrosis transmembrane regulator gene produces different phenotypes depending on genetic background. Nat Genet. 1993;5:274-8.
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  62. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med. 1993;329:1308-13.
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  63. Highsmith WE. Carrier studies in cystic fibrosis. Clin Chem. 1993;39:706-707.
  64. Hopfer R, Walden P, Sutterquis S, Highsmith WE. Detection and identification of pathogenic fungi using the polymerase chain reaction and restriction digest analysis. Med Vet Mycology. 1993;31:65-75.
  65. Osborn L, Santis G, Schwarz M, Klinger K, Dork T, Highsmith WE, et al. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum Genet. 1992;89:653-658.
  66. Kilby JM, Gilligan PH, Yankaskas JR, Highsmith WE, Edwards L, Knowles MR. Nontuberculosis mycobacteria in adult patients with cystic fibrosis. Chest. 1992;102:70-75.
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  67. Forman DT, Bankson DD, Highsmith WE. Neonatal screening for serum biotinidase activity. Ann Clin Lab Sci. 1992;22:144-154.
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  68. Friedman KJ, Highsmith WE, Silverman LM. Detection of multiple cystic fibrosis mutations using PCR-mediated site-directed mutagenesis. Clin Chem. 1991;37:753-755.
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  69. Highsmith WE Jr, Chong GL, Orr HT, Perry TR, Schald D, Farber R, Wagner K, Knowles MR, Thibodeau SN, et al. Frequency of the delta-Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study. Clin Chem. 1990 Oct; 36:1741-6.
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  70. Prior TW, Papp AC, Snider PJ, Highsmith WE, Friedman KJ, Perry TR, et al. Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides. Clin Chem. 1990;36:2113-2117.
  71. Prior TW, Highsmith WE, Friedman KJ, Perry TR, Scheuerbrandt G, Silverman LM. A model for molecular screening of newborns: simultaneous detection of DMD/BMD muscular dystrophies and cystic fibrosis. Clin Chem. 1990;36:1756-1759.
  72. The Cystic Fibrosis Genetic Analysis Consortium. Worldwide survey of the Delta F508 mutation. Am J Hum Genet. 1990;47:354-359.
  73. Prior TW, Friedman KJ, Highsmith WE, Perry TR, Silverman LM. A molecular protocol for the determination of carrier status in Duchenne and Becker muscular dystrophies. Clin Chem. 1990;36: 441-445.
  74. Friedman KJ, Highsmith WE, Prior TW, Perry TR, Silverman LM. Detection of the cystic fibrosis deletion mutation using PCR mediated site-directed mutagenesis. Clin Chem. 1990;36:695-696.
  75. McConkie-Rosell A, Chen YT, Harris D, Speer MC, Periak-Vance MA, Ding JH, Highsmith WE, et al. Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype. Ann Intern Med. 1989;111:797- 801.
  76. Highsmith WE, Silverman LM. Clinical utility of the polymerase chain reaction. Bull Lab Med. 1989;104:1-4.
  77. Highsmith WE, Perry TR, Prior TW, Silverman LM. Use of the polymerase chain reaction for the simultaneous analysis of two Pst I polymorphisms linked to cystic fibrosis. Clin Chem. 1989 Jun;35(6):1260-1.
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  78. Highsmith WE, Hyde PM. Improved enzymatic hydrolysis of conjugated bile acids. Lipids. 1987;22:61-3.
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  79. Davis RA, Highsmith WE, McNeal MM, Schexnayder JA, Kuan JW. Bile acid synthesis by cultured hepatocytes: Inhibition of mevinolin, but not by bile acids. J Biol Chem. 1983;258:4079-82.
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