Richard Cotton

Personal Home Page

http://www.florey.edu.au/about/management-and-staff/scientific-staff/richard-cotton/

Articles in Scholarly Journals [Incomplete List]

  1. VariVis: a visualisation toolkit for variation databases
    BMC Bioinformatics, vol. 9, no. 1, p. 206, 2008
  2. Human Variome Project: progress and plans
    Personalized Medicine, vol. 5, no. 2, pp. 99–100, 2008
  3. General mutation databases: analysis and review
    Journal of Medical Genetics, vol. 45, no. 2, pp. 65–70, 2007
  4. Human Mutation bids farewell to co-editor Haig H. Kazazian, Jr.
    Human Mutation, vol. 28, no. 7, pp. v–v, 2007
  5. A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases
    Human Mutation, vol. 28, no. 10, pp. 931–932, 2007
  6. Recommendations for locus-specific databases and their curation
    Human Mutation, vol. 29, no. 1, pp. 2–5, 2007
  7. A new cover and new challenges forHuman Mutation
    Human Mutation, vol. 29, no. 1, pp. 1–1, 2007
  8. A database of locus-specific databases
    Nature Genetics, vol. 39, no. 4, Article ID ng0407-425, 1 pages, 2007
  9. Recommendations of the 2006 Human Variome Project meeting
    Nature Genetics, vol. 39, no. 4, Article ID ng2024, 3 pages, 2007
  10. Letter to the Editor
    Genetics in Medicine, vol. 8, no. 6, p. 389, 2006
  11. BMC Chemical Biology, vol. 3, no. 1, p. 1, 2003
  12. Time for a Unified System of Mutation Description and Reporting: A Review of Locus-Specific Mutation Databases
    Genome Research, vol. 12, no. 5, pp. 680–688, 2002
  13. Site-selective reactions of imperfectly matched DNA with small chemical molecules: applications in mutation detection
    Bioorganic Chemistry, vol. 30, no. 4, pp. 216–232, 2002
  14. Comparative Study of Permanganate Oxidation Reactions of Nucleotide Bases by Spectroscopy
    Bioorganic Chemistry, vol. 30, no. 2, pp. 133–137, 2002
  15. Mutation detection 2001: Novel technologies, developments and applications for analysis of the human genome
    Human Mutation, vol. 19, no. 4, pp. 313–314, 2002
  16. 10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland
    Human Mutation, vol. 18, no. 4, pp. 352–354, 2001
  17. In memoriam
    Human Mutation, vol. 18, no. 6, pp. 461–461, 2001
  18. Mutation detection 2001: Sixth international symposium on mutations in the human genome, May 3-7, 2001, Bled, Slovenia
    Human Mutation, vol. 18, no. 6, pp. 542–544, 2001
  19. Variable phenotype of Alzheimer's disease with spastic paraparesis
    Annals of Neurology, vol. 49, no. 1, pp. 125–129, 2001
  20. Communicating ?mutation:? Modern meanings and connotations
    Human Mutation, vol. 19, no. 1, pp. 2–3, 2001
  21. Human Mutation: The official journal of the Human Genome Variation Society (HGVS)
    Human Mutation, vol. 19, no. 1, pp. 1–1, 2001
  22. Using CCM and DHPLC to detect mutations in the glucocorticoid receptor in atherosclerosis: a comparison
    Journal of Biochemical and Biophysical Methods, vol. 47, no. 1-2, pp. 91–100, 2001
  23. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome1
    Kidney International, vol. 60, no. 2, Article ID 4492445, 3 pages, 2001
  24. Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria
    European Journal of Human Genetics, vol. 8, no. 9, Article ID 5200518, 13 pages, 2000
  25. Correct heteroduplex formation for mutation detection analysis
    Molecular Diagnosis, vol. 5, no. 1, pp. 67–73, 2000
  26. Progress of the HUGO Mutation Database Initiative: A brief introduction to theHuman Mutation MDI Special Issue
    Human Mutation, vol. 15, no. 1, pp. 4–6, 2000
  27. 7th International HUGO Mutation Database Meeting, October 19, 1999, San Francisco, U.S.A.
    Human Mutation, vol. 15, no. 3, pp. 288–292, 2000
  28. Mutation detection using fluorescent enzyme mismatch cleavage with T4 endonuclease VII
    Electrophoresis, vol. 20, no. 6, pp. 1162–1170, 1999
  29. Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy
    European Journal of Human Genetics, vol. 7, no. 8, Article ID 5200410, 2 pages, 1999
  30. Mutation detection by chemical cleavage
    Genetic Analysis: Biomolecular Engineering, vol. 14, no. 5-6, pp. 165–168, 1999
  31. Nature Structural Biology, vol. 6, no. 5, pp. 442–448, 1999
  32. A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects
    Human Mutation, vol. 13, no. 6, pp. 503–504, 1999
  33. Reactivity of potassium permanganate and tetraethylammonium chloride with mismatched bases and a simple mutation detection protocol
    Nucleic Acids Research, vol. 27, no. 8, pp. 1866–1874, 1999
  34. Mutation Detection and Mutation Databases
    Clinical Chemistry and Laboratory Medicine, vol. 36, no. 8, pp. 519–522, 1998
  35. Structure/function analysis of the domains required for the multimerisation of phenylalanine hydroxylase
    Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, vol. 1382, no. 2, pp. 295–304, 1998
  36. Chemical cleavage of mismatch: A new look at an established method
    Human Mutation, vol. 11, no. 5, pp. 345–353, 1998
  37. Proof of “disease causing” mutation
    Human Mutation, vol. 12, no. 1, pp. 1–3, 1998
  38. Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations
    Human Mutation, vol. 12, no. 4, pp. 267–273, 1998
  39. Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
    Human Genetics, vol. 100, no. 5-6, pp. 637–642, 1997
  40. Slowly but surely towards better scanning for mutations
    Trends in Genetics, vol. 13, no. 2, pp. 43–46, 1997
  41. Journal of Inherited Metabolic Disease, vol. 20, no. 6, pp. 828–830, 1997
  42. Tryptophan hydroxylase: Purification by affinity chromatography on calmodulin-Sepharose
    Journal of Neuroscience Methods, vol. 69, no. 2, pp. 149–153, 1996
  43. Diagnostic Molecular Pathology, vol. 5, no. 4, pp. 265–270, 1996
  44. Screening for Mutations by Enzyme Mismatch Cleavage with T4 Endonuclease VII
    Proceedings of the National Academy of Sciences, vol. 92, no. 1, pp. 87–91, 1995
  45. Polymorphism in the 3? untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes
    Human Genetics, vol. 96, no. 6, pp. 741–743, 1995
  46. Molecular basis of dihydropteridine reductase deficiency
    Human Mutation, vol. 5, no. 4, pp. 279–284, 1995
  47. Mutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatch
    Human Mutation, vol. 6, no. 3, pp. 250–251, 1995
  48. Intra- and inter-season genetic variability in the VP 7 gene of serotype 1 (monotype 1 a) rotavirus clinical isolates
    Archives of Virology, vol. 130, no. 1-2, pp. 57–69, 1993
  49. Immobilization of tryptophan hydroxylase by immune adsorption: A method to study regulation of catalytic activity
    Brain Research Bulletin, vol. 29, no. 6, pp. 949–953, 1992
  50. Application of antiphenylalanine hydroxylase antibodies to the study of the serotonergic system in the human brain
    Journal of Chemical Neuroanatomy, vol. 5, no. 4, pp. 311–313, 1992
  51. Geographical clusters of dengue virus type 2 isolates based on analysis of infected cell RNA by the chemical cleavage at mismatch method
    Journal of Virological Methods, vol. 40, no. 2, pp. 205–218, 1992
  52. Distribution, morphology and number of monoamine-synthesizing and substance P-containing neurons in the human dorsal raphe nucleus
    Neuroscience, vol. 42, no. 3, pp. 757–775, 1991
  53. Mutation detection
    Nature, vol. 353, no. 6344, Article ID 353582a0, 1 pages, 1991
  54. Localization of Cofactor Binding Sites with Monoclonal Anti-Idiotype Antibodies: Phenylalanine Hydroxylase
    Proceedings of the National Academy of Sciences, vol. 88, no. 13, pp. 5734–5738, 1991
  55. Loss of brainstem serotonin- and substance P-containing neurons in Parkinson's disease
    Brain Research, vol. 510, no. 1, pp. 104–107, 1990
  56. Detection and localization of base changes in RNA using a chemical cleavage method
    Analytical Biochemistry, vol. 183, no. 2, pp. 263–268, 1989
  57. Anti-idiotypic antibodies elicited by pterin recognize active site epitopes in dihydrofolate reductases and dihydropteridine reductase*1
    Archives of Biochemistry and Biophysics, vol. 275, no. 2, pp. 344–353, 1989