David N. Cooper

Personal Home Page

http://www.cardiff.ac.uk/medic/contactsandpeople/c/cooper-david-neil-prof-biography_new.html

Articles in Scholarly Journals [Incomplete List]

  1. Molecular mechanisms of chromosomal rearrangement during primate evolution
    Chromosome Research, vol. 16, no. 1, pp. 41–56, 2008
  2. Detection of two Alu insertions in the CFTR gene
    Journal of Cystic Fibrosis, vol. 7, no. 1, pp. 37–43, 2008
  3. Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions
    European Journal of Human Genetics, vol. 16, no. 5, Article ID 5202002, 8 pages, 2008
  4. Gene conversion: mechanisms, evolution and human disease
    Nature Reviews Genetics, vol. 8, no. 10, Article ID nrg2193, 13 pages, 2007
  5. Gain-of-glycosylation mutations
    Current Opinion in Genetics & Development, vol. 17, no. 3, pp. 245–251, 2007
  6. Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis
    Molecular Genetics and Metabolism, vol. 92, no. 1-2, pp. 168–175, 2007
  7. Searching for potential microRNA-binding site mutations amongst known disease-associated 3′ UTR variants
    Genomic Medicine, vol. 1, no. 1-2, pp. 29–33, 2007
  8. Mechanism of Alu integration into the human genome
    Genomic Medicine, vol. 1, no. 1-2, pp. 9–17, 2007
  9. Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis
    Genomic Medicine, vol. 1, no. 1-2, pp. 65–73, 2007
  10. Single base-pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
    Human Mutation, vol. 28, no. 2, pp. 150–158, 2007
  11. Understanding the recent evolution of the human genome: insights from human–chimpanzee genome comparisons
    Human Mutation, vol. 28, no. 2, pp. 99–130, 2007
  12. Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
    Human Mutation, vol. 28, no. 3, pp. 255–264, 2007
  13. Editorial
    Human Genetics, vol. 122, no. 3-4, pp. 217–217, 2007
  14. A legal framework for biobanking: the German experience
    European Journal of Human Genetics, vol. 15, no. 5, Article ID 5201810, 4 pages, 2007
  15. Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination
    The American Journal of Human Genetics, vol. 81, no. 6, pp. 1201–1220, 2007
  16. Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease
    Haemophilia, vol. 13, no. 5, pp. 645–648, 2007
  17. Evolutionary and Biomedical Insights from the Rhesus Macaque Genome
    Science, vol. 316, no. 5822, pp. 222–234, 2007
  18. Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions
    Cytogenetic and Genome Research, vol. 116, no. 1-2, pp. 53–60, 2007
  19. Assessing Radiation-Associated Mutational Risk to the Germline: Repetitive DNA Sequences as Mutational Targets and Biomarkers
    Radiation Research, vol. 165, no. 3, p. 249, 2006
  20. Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex
    British Journal of Dermatology, vol. 155, no. 1, pp. 201–203, 2006
  21. LINE-1 Endonuclease-Dependent Retrotranspositional Events Causing Human Genetic Disease: Mutation Detection Bias and Multiple Mechanisms of Target Gene Disruption
    Journal of Biomedicine and Biotechnology, vol. 2006, Article ID 56182, 9 pages, 2006
  22. Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region
    Nucleic Acids Research, vol. 34, no. 9, pp. 2663–2675, 2006
  23. Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization
    Human Genetics, vol. 119, no. 1-2, pp. 185–198, 2006
  24. Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke
    Human Genetics, vol. 119, no. 5, pp. 527–540, 2006
  25. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview
    Human Genetics, vol. 120, no. 1, pp. 1–21, 2006
  26. Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes
    Human Genetics, vol. 120, no. 1, pp. 126–138, 2006
  27. Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome
    Human Genetics, vol. 120, no. 2, pp. 270–284, 2006
  28. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants
    Human Genetics, vol. 120, no. 3, pp. 301–333, 2006
  29. Structural divergence between the human and chimpanzee genomes
    Human Genetics, vol. 120, no. 6, pp. 759–778, 2006
  30. A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions
    Blood Cells, Molecules, and Diseases, vol. 36, no. 3, pp. 385–391, 2006
  31. The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscus☆
    Genomics, vol. 87, no. 1, pp. 39–45, 2006
  32. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
    European Journal of Human Genetics, vol. 14, no. 5, Article ID 5201590, 9 pages, 2006
  33. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
    Nature Genetics, vol. 37, no. 7, Article ID ng1581, 8 pages, 2005
  34. Early onset seizures and Rett-like features associated with mutations in CDKL5
    European Journal of Human Genetics, vol. 13, no. 10, Article ID 5201451, 7 pages, 2005
  35. Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome
    Human Genetics, vol. 117, no. 2-3, pp. 168–176, 2005
  36. A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease
    Human Genetics, vol. 117, no. 5, pp. 411–427, 2005
  37. Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees
    Human Genetics, vol. 119, no. 1-2, pp. 103–112, 2005
  38. Origin of the prevalentSFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency
    American Journal of Medical Genetics Part A, vol. 140A, no. 1, pp. 62–69, 2005
  39. Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
    Human Mutation, vol. 25, no. 2, pp. 207–221, 2005
  40. Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
    Human Mutation, vol. 25, no. 3, pp. 318–318, 2005
  41. Complex gene rearrangements caused by serial replication slippage
    Human Mutation, vol. 26, no. 2, pp. 125–134, 2005
  42. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity
    Human Mutation, vol. 26, no. 3, pp. 205–213, 2005
  43. Intrachromosomal serial replication slippage intrans gives rise to diverse genomic rearrangements involving inversions
    Human Mutation, vol. 26, no. 4, pp. 362–373, 2005
  44. Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16
    Genome Research, vol. 15, no. 9, pp. 1232–1242, 2005
  45. Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1
    Journal of Investigative Dermatology, vol. 125, no. 3, pp. 463–466, 2005
  46. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
    Journal of Medical Genetics, vol. 43, no. 5, pp. 451–456, 2005
  47. A Novel Dysfunctional Growth Hormone Variant (Ile179Met) Exhibits a Decreased Ability to Activate the Extracellular Signal-Regulated Kinase Pathway
    Journal of Clinical Endocrinology & Metabolism, vol. 89, no. 3, pp. 1068–1075, 2004
  48. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
    Human Mutation, vol. 23, no. 2, pp. 134–146, 2004
  49. Gross rearrangement breakpoint database (GRaBD?)
    Human Mutation, vol. 23, no. 3, pp. 219–221, 2004
  50. Genomic rearrangements in theCFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
    Human Mutation, vol. 23, no. 4, pp. 343–357, 2004
  51. Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)
    Human Mutation, vol. 25, no. 1, pp. 45–55, 2004
  52. Breakpoints of gross deletions coincide with non-B DNA conformations
    Proceedings of the National Academy of Sciences, vol. 101, no. 39, pp. 14162–14167, 2004
  53. Human growth hormone 1 (GH1) gene expression: Complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region
    Human Mutation, vol. 21, no. 4, pp. 408–423, 2003
  54. Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature
    Human Mutation, vol. 21, no. 4, pp. 424–440, 2003
  55. Human Gene Mutation Database (HGMD�): 2003 update
    Human Mutation, vol. 21, no. 6, pp. 577–581, 2003
  56. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends
    Human Mutation, vol. 22, no. 3, pp. 245–251, 2003
  57. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
    Human Mutation, vol. 22, no. 3, pp. 229–244, 2003
  58. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1
    Human Genetics, vol. 112, no. 1, pp. 12–17, 2003
  59. A rare complex DNA rearrangement in the murine Steel gene results in exon duplication and a lethal phenotype
    Blood, vol. 102, no. 10, pp. 3548–3555, 2003
  60. Journal of Pediatric Hematology/Oncology, vol. 25, no. 5, pp. 418–420, 2003
  61. Proposed guidelines for papers describing DNA polymorphism-disease associations
    Human Genetics, vol. 110, no. 3, pp. 207–208, 2002
  62. Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease
    Human Mutation, vol. 20, no. 2, pp. 98–109, 2002
  63. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity
    Human Mutation, vol. 21, no. 1, pp. 28–44, 2002
  64. Journal of Inherited Metabolic Disease, vol. 25, no. 3, pp. 157–182, 2002
  65. Human type I hair keratin pseudogene ? hHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence
    Human Genetics, vol. 108, no. 1, pp. 37–42, 2001
  66. Estimating the Efficacy and Efficiency of Cascade Genetic Screening
    The American Journal of Human Genetics, vol. 69, no. 2, pp. 361–370, 2001
  67. Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours
    Human Genetics, vol. 107, no. 1, pp. 33–39, 2000
  68. Molecular genetic analysis of severe protein C deficiency
    Human Genetics, vol. 106, no. 6, pp. 646–653, 2000
  69. Molecular analysis of the genotype-phenotype relationship in factor X deficiency
    Human Genetics, vol. 106, no. 2, pp. 249–257, 2000
  70. Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants
    Clinical Genetics, vol. 57, no. 3, pp. 221–224, 2000
  71. Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene
    Gene, vol. 254, no. 1-2, pp. 9–18, 2000
  72. Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress
    Human Mutation, vol. 15, no. 1, pp. 13–15, 2000
  73. Human Gene Mutation Database?A biomedical information and research resource
    Human Mutation, vol. 15, no. 1, pp. 45–51, 2000
  74. Identification of an intronic regulatory element in the human protein C ( PROC) gene
    Human Genetics, vol. 107, no. 5, pp. 458–465, 2000
  75. The Frequency of Inherited Disorders Database
    Human Genetics, vol. 108, no. 1, pp. 72–74, 2000
  76. Evolution of the proximal promoter region of the mammalian growth hormone gene
    Gene, vol. 237, no. 1, pp. 143–151, 1999
  77. Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53
    Human Genetics, vol. 104, no. 1, pp. 15–22, 1999
  78. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
    Human Genetics, vol. 102, no. 5, pp. 591–597, 1998
  79. Variation of site-specific methylation patterns in the factor VIII ( F8C ) gene in human sperm DNA
    Human Genetics, vol. 103, no. 2, pp. 228–233, 1998
  80. The molecular genetics of growth hormone deficiency
    Human Genetics, vol. 103, no. 3, pp. 255–272, 1998
  81. Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes
    The American Journal of Human Genetics, vol. 63, no. 2, pp. 474–488, 1998
  82. p53 mutations, benzo[a]pyrene and lung cancer
    Mutagenesis, vol. 13, no. 4, pp. 319–320, 1998
  83. The human gene mutation database
    Nucleic Acids Research, vol. 26, no. 1, pp. 285–287, 1998
  84. RNA-binding proteins and human male infertility
    Trends in Genetics, vol. 13, no. 3, pp. 87–89, 1997
  85. Homology modelling of the catalytic domain of early mammalian protein C: evolution of structural features
    Human Genetics, vol. 101, no. 1, pp. 37–42, 1997
  86. Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases
    Human Genetics, vol. 98, no. 3, pp. 351–370, 1996
  87. Mutational and functional analysis of the neurofibromatosis type 1 ( NF1 ) gene
    Human Genetics, vol. 99, no. 1, pp. 88–92, 1996
  88. Single base-pair substitutions in pathology and evolution: Two sides to the same coin
    Human Mutation, vol. 8, no. 1, pp. 23–31, 1996
  89. Prothrombin cleavage by human vascular smooth muscle cells: A potential alternative pathway to the coagulation cascade
    Journal of Cellular Biochemistry, vol. 59, no. 4, pp. 514–528, 1995
  90. Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection
    Human Mutation, vol. 5, no. 1, pp. 48–57, 1995
  91. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis
    Genomics, vol. 13, no. 4, pp. 1359–1361, 1992
  92. A single base-pair deletion in the protein C gene causing recurrent thromboembolism
    Thrombosis Research, vol. 61, no. 3, pp. 335–340, 1991
  93. The molecular genetics of familial venous thrombosis
    Blood Reviews, vol. 5, no. 1, pp. 55–70, 1991
  94. Molecular genetic analysis of a novel form of haemophilia a characterized by the variable expression of factor VIII
    Thrombosis Research, vol. 59, no. 5, pp. 871–877, 1990
  95. The distribution of the dinucleotide CpG and cytosine methylation in the vitellogenin gene family
    Journal of Molecular Evolution, vol. 25, no. 2, pp. 107–115, 1987