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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

Sensitivity and Specificity
  1. O'Donovan, M.C., Oefner, P.J., Roberts, S., Austin, J., Guy, C., Hoogendoorn, B., Sommer, S., McGuffin, P. (1998). Blind analysis of denaturing high performance liquid chromatography as a tool for mutation detection. Genomics 52(1):44-49.

  2. O'Donovan, M.C., Oefner, P.J., Roberts, S.C., Austin, J., Hoogendoorn, B., Guy, C., Speight, G., Upadhyaya, M., Sommer, S.S., McGuffin, P. (1998) Blind Analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Am. J. Hum. Genet. 63 [Suppl.]:A238.

  3. Jones, A.C., Austin, J., Hansen, N., Hoogendoorn, B., Oefner, P.J., Cheadle, J.P., O'Donovan, M.C. (1999) Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis.Clin. Chem. 45(8 Pt 1):1133-1140.

  4. Skopek, T.R., Glaab, W.E., Monroe, J.J., Kort, K.L., Schaefer, W. (1999) Analysis of sequence alterations in a defined DNA region: comparison of temperature-modulated heteroduplex analysis and denaturing gradient gel electrophoresis. Mutat. Res. 430(1):13-21

  5. Wagner, T., Stoppa-Lyonnet, D., Fleischmann, E., Muhr, D., Pagès, S., Sandberg, T., Caux, V., Möslinger, R., Langbauer, G., Borg, A. and Oefner, P. (1999) Denaturing high performance liquid chromatography (DHPLC) detects reliably BRCA1 and BRCA2 mutations. Genomics 62:369-376.

  6. Choy, Y.S., Dabora, S.L., Hall, F., Ramesh, V., Niida, Y., Franz, D., Kasprzyk-Obara, J., Reeve, M.P., Kwiatkowski, D.J. (1999) Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann. Hum. Genet. 63:383-391

  7. Dobson-Stone, C, Cox, R.D., Lonie, L., Southam, L., Fraser, M., Wise, C., Bernier, F., Hodgson, S., Porter, D.E., Simpson, A.H., Monaco, A.P. (2000) Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. Eur. J. Hum. Genet. 8(1):24-32.

  8. Ellis, L.A., Taylor, C.F., Taylor, G.R. (2000) A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning. Hum. Mutat. 15(6):556-64.

  9. Spiegelman, J.I., Mindrinos, M.N., Oefner, P.J. (2000) High accuracy DNA sequence variation screening by DHPLC. BioTechniques 29(5):1084-1092.

  10. Gross, E., Arnold, N., Pfeifer, K., Bandick, K., Kiechle, M. (2000) Identification of specific BRCA1 and BRCA2 variants by DHPLC. Hum. Mutat. 16(4):345-353.

  11. Cotton, R.G.H., Bray, P.J. (2001) Using CCM and DHPLC to detect mutations in the glucocorticoid receptor in atherosclerosis: a comparison. J Biochem. Biophys. Meth. Jan;47(1-2):91-100

  12. Taliani MR, Roberts SC, Dukek BA, Pruthi RK, Nichols WL, Heit JA. (2001) Sensitivity and specificity of denaturing high-pressure liquid chromatography for unknown protein C gene mutations. Genet Test. Spring;5(1):39-44.

  13. Shi J, Yang S, Jiang Z, Jiang H, Chen T, Chen Z, Huang W. (2001) Comparison of denaturing high performance liquid chromatography with direct sequencing in the detection of single nucleotide polymorphism Zhonghua Yi Xue Yi Chuan Xue Za Zhi. Jun;18(3):198-201.

  14. Andrulis IL, Anton-Culver H, Beck J, Bove B, Boyd J, Buys S, Godwin AK, Hopper JL, Li F, Neuhausen SL, Ozcelik H, Peel D, Santella RM, Southey MC, Van Orsouw NJ, Venter DJ, Vijg J, Whittemore AS. (2002) Comparison of DNA- and RNA-Based Methods for Detection of Truncating BRCA1 Mutations. Hum Mutat. Jul;20(1):65-73.
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