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DHPLC Publication List (sorted by categories)

The DHPLC publication list is also available sorted by publication year

small bullet The Method small bullet Single Nucleotide Extension Sequencing and DHPLC
small bullet Sensitivity and Specificity small bullet DNA/RNA Purification
small bullet Mutational Analysis of Candidate Genes small bullet Mass Spectrometry and DHPLC
small bullet BRCA1 & BRCA2 small bullet Quantitation of Gene Expression by DHPLC
small bullet Tuberous Sclerosis small bullet Related Papers
small bullet Mapping and Positional Cloning small bullet Miscellaneous
small bullet Reverse Genetics small bullet Molecular Fingerprinting of Microorganisms
small bullet Human Evolution, Y-Chromosome small bullet DNA Methylation Analysis

The references below are hyper-linked to their abstract via PubMed or, whenever possible, directly to the journal. (Access to journals may require membership or subscription).

Please, forward new citations for inclusion in this list to

The Method
  1. Kazakevich,Y. and McNair, H.M. (1997) online Textbook on HPLC

  2. Oefner, P.J., Underhill, P.A. (1995) Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Am. J. Hum. Genet. 57 [Suppl.], A266. (Abstract)

  3. Cotton, R.G.H. (1997). Slowly but surely towards better scanning for mutations. Trends Genet. 13, 43-46.

  4. Oefner, P.J., Underhill, P.A. (1998) DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). Current Protocols in Human Genetics. Wiley & Sons, New York, Supplement 19:7.10.1-7.10.12.

  5. Kuklin, A., Munson, K., Gjerde, D., Haefele, R., Taylor, P. (1998) Detection of single-nucleotide polymorphisms with the WAVE(tm) DNA Fragment Analysis System. Genetic Testing 1(3):201-206.

  6. Kuklin, A., Davis, A.P., Haefele, R., Alianell, G., Gjerde, D., and Taylor, P. (1998). New Paradigms in DNA polymorphism detection. Biomed. Products 7, 90-92.

  7. Hecker, K.H., Taylor, P.D., Gjerde, D.T. (1999) Mutation detection by denaturing DNA chromatography using fluorescently labeled polymerase chain reaction products. Anal. Biochem. 272(2):156-164.

  8. Escary, J-L., Lonie, L., Cox, R.D., Walter, J.M., and M. Lathrop. (1999) Screening strategy for mutation detection using denaturing high-performance liquid chromatography (DHPLC).International Biotechnology Laboratory 17(2):19.

  9. DeFrancesco, L. (1999). Get the gel out of here. The Scientist 13, 21.

  10. Kuklin, A., Munson, K., Taylor, P., and Gjerde, D. (1999). Isolation and analysis of amplified cDNA fragments during detection of unknown polymorphisms with temperature modulated heteroduplex chromatography. Mol. Biotechnol. 11, 257-261.

  11. Kuklin, A., Davis, A.P., Hecker, K. H., Gjerde, D.T., Taylor, P.D. (1999) A novel technique for rapid automated genotyping of DNA polymorphisms in the mouse. Mol. Cell. Probes 13(3):239-42

  12. Oefner, P.J. (2000) Allelic discrimination by denaturing high-performance liquid chromatography. J. Chromatogr. B. Biomed. Sci. App. 739:345-355.

  13. Hou, Y., Zhang S. (2000) Temperature-modulated high-performance liquid chromatography for detecting variation in human genome. Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 17(3):145-148.

  14. Liao, L., Meng, H., Hou, Y., Zhang, S., Yan, Y., Su, Z., Li, Y., Wu, J., Zhang, J. (2000) Analysis of temperature-modulated high-performance liquid chromatography as a tool for detection of single nucleotide polymorphism [Article in Chinese] Chung Hua Hsueh Chuan Hsueh Tsa Chih 17(3):204-207.

  15. Wolford, J.K., Blunt, D., Ballecer, C., Prochazka, M. (2000) High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC). Hum Genet Nov;107(5):483-487.

  16. Deng, D., Deng, G., Zhou, J., and Xin, H. (2000). Detection of CPG methylations in human mismatch repair gene HMLH1 promoter by denaturing high-performance liquid chromatography (DHPLC). Chinese Journal of Cancer Research 12, 171 & 191.

  17. Dickman M, Hornby DP. (2000) Isolation of single-stranded DNA using denaturing DNA chromatography. Anal Biochem. Aug 15;284(1):164-7.

  18. Huber, C.G., Premstaller, A., Xiao, W., Oberacher, H., Bonn, G.K., Oefner, P.J. (2001) Mutation detection by capillary denaturing high-performance liquid chromatography using monolithic columns. J Biochem. Biophys. Meth. Jan;47(1-2):5-19

  19. Kristensen VN, Kelefiotis D, Kristensen T, Borresen-Dale AL. (2001) High-throughput methods for detection of genetic variation. Biotechniques 2001, 30(2):318-22, 324, 326

  20. Nickerson ML, Warren MB, Zbar B, Schmidt LS. (2001) Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods. Hum Mutat., 17(3):210-9

  21. Jones AC, Sampson JR, Cheadle JP. (2001) Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mutat., 17(3):233-4

  22. Cox D, Boillot C, Canzian F. (2001) Data mining: Efficiency of using sequence databases for polymorphism discovery. Hum Mutat. Feb;17(2):141-50

  23. Narayanaswami G, Taylor PD. (2001) Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure. Genet Test. Spring;5(1):9-16.

  24. Lipsky, R.H., Mazzanti, C.M., Rudolph, J.G., Xu, K., Vyas, G., Bozak, D., Radel, M.Q., and Goldman, D. (2001). DNA melting analysis for detection of single nucleotide polymorphisms. Clin. Chem. 47, 635-644.

  25. Xiao, W., and Oefner, P.J. (2001) Denaturing high-performance liquid chromatography: A review. Hum. Mutat. 17:439-474.

  26. Premstaller A, Xiao W, Oberacher H, O'Keefe M, Stern D, Willis T, Huber C.G., and Oefner P.J. (2001) Temperature-Modulated Array High-Performance Liquid Chromatography Genome Res. 11: 1944-1951

  27. Larsen LA, Christiansen M, Vuust J, Andersen PS. (2001) Recent developments in high-throughput mutation screening. Pharmacogenomics. Nov;2(4):387-99.

  28. Premstaller, A., Oefner, P. J. (2002) New Trends in DHPLC. American Genomic/Proteomic Technology, 2 (2002) 27-29.

  29. Matin MM, Andrews PW, Hornby DP. (2002) Multidimensional Differential Display via Ion-Pair Reversed-Phase Denaturing High Performance Liquid Chromatography. Anal Biochem. May 1;304(1):47-54.

  30. Gjerde DT, Hanna CP, Hornby D. (2002). DNA Chromatography. Wiley-VCH, Weinheim, Germany.

  31. Pissard S, Huynh LT, Martin J, Goossens M. ( 2002). HFE genotyping by amplification refractory mutation system-denaturing HPLC. Clin Chem 48:769-772.

  32. Premstaller A, Oberacher H, Rickert A, Huber CG, Oefner PJ. (2002) Multiplex analysis of single-nucleotide extension products on a 16-capillary, denaturing, high-performance liquid chromatography array. Genomics. Jun;79(6):793-8.

  33. Baumer A. (2002) Analysis of the methylation status of imprinted genes based on methylation-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography. Methods. Jun;27(2):139-43.

  34. Premstaller, A., Oefner, P.J. (2002) Denaturing high performance liquid chromatography of nucleic acids. LC&GC 15 (7), 410-422.

  35. Gallo A, Thomson E, Brindle J, O'Connell MA, Keegan LP. (2002) Micro-processing events in mRNAs identified by DHPLC analysis. Nucleic Acids Res. Sep 15;30(18):3945-53.

  36. Zhu W, Zou H, Beck A, Chervinsky D, Malik D, Brooks J, Tan D. (2002). Loss of heterozygosity in primary lung cancer using laser capture microdissection and WAVE DNA fragment analysis techniques. Med Sci Monit 8, BR95-99.

  37. Pfeiffer RM, Bura E, Smith A, Rutter JL. (2002). Two approaches to mutation detection based on functional data. Stat Med 21(22):3447-3464.

  38. Bahrami AR, Dickman MJ, Matin MM, Ashby JR, Brown PE, Conroy MJ, Fowler GJ, Rose JP, Sheikh QI, Yeung AT, Hornby DP. (2002) Use of fluorescent DNA-intercalating dyes in the analysis of DNA via ion-pair reversed-phase denaturing high-performance liquid chromatography. Anal Biochem. Oct 15;309(2):248-52.

  39. Oefner PJ, Huber CG. (2002) A decade of high-resolution liquid chromatography of nucleic acids on styrene-divinylbenzene copolymers. J Chromatogr B Analyt Technol Biomed Life Sci. Dec 25;782(1-2):27-55.

  40. Oefner PJ. (2002) Sequence variation and the biological function of genes: methodological and biological considerations. J Chromatogr B Analyt Technol Biomed Life Sci. Dec 25;782(1-2):3-25.

  41. Rudolph JG, White S, Sokolsky C, Bozak D, Mazzanti C, Lipsky RH, Goldman D. (2002) Determination of Melting Temperature for Variant Detection Using dHPLC: A Comparison Between an Empirical Approach and DNA Melting Prediction Software. Genet Test. Fall;6(3):169-76.

  42. Liu MR, Pan KF, Wang Y, Lu YY. (2002) Influence of DNA polymerases on mutation screening of denaturing high-performance liquid chromatography. Ai Zheng. Oct;21(10):1160-3. Chinese.

  43. Narayanaswami G, Taylor PD. (2002) Site-Directed Mutagenesis of Exon 5 of p53: Purification, Analysis, and Validation of Amplicons for DHPLC. Genet Test. Fall;6(3):177-84.

  44. Emmerson P, Maynard J, Jones S, Butler R, Sampson JR, Cheadle JP. (2003) Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Hum Mutat. Feb;21(2):112-5.

  45. Glare EM, Jenkins AJ, Cotton RG. (2003) Plastic contaminant masquerades as DNA in mutation detection by denaturing HPLC. Biotechniques. Jan;34(1):59-60.

  46. Lilleberg SL. (2003). In-depth mutation and SNP discovery using DHPLC gene scanning. Curr. Opin. Drug Discov. Devel. 6, 237-252.

  47. Colosimo A, Guida V, Flex E, Conti E, Dallapiccola B. (2003). Use of DHPLC for rapid screening of recombinant clones. Biotechniques 34, 706-708.

  48. Frueh FW, Noyer-Weidner M. (2003). The use of denaturing high-performance liquid chromatography (DHPLC) for the analysis of genetic variations: impact for diagnostics and pharmacogenetics. Clin Chem Lab Med 41:452-61

  49. Conley YP, Brockway H, Beatty M, Kerr ME. (2003) Qualitative and quantitative detection of mitochondrial heteroplasmy in cerebrospinal fluid using denaturing high-performance liquid chromatography. Brain Res Brain Res Protoc. 2003 Oct;12(2):99-103.

  50. Kim IJ, Shin Y, Kang HC, Park JH, Ku JL, Park HW, Park HR, Lim SB, Jeong SY, Kim WH, Park JG. (2003). Robust microsatellite instability (MSI) analysis by denaturing high-performance liquid chromatography (DHPLC). J Hum Genet. 2003;48(10):525-30.

  51. Pan KF, Liu W, Lu YY, Zhang L, Li ZP, Lu WL, Thibodeau SN, You WC. (2003). High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography. Hum Mutat. 2003 Nov;22(5):388-94.


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