Articles in Scholarly Journals [Incomplete List]

1. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
   Human Molecular Genetics, vol. 16, no. 17, pp. 2072–2088, 2007
2. Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation
   Human Molecular Genetics, vol. 16, no. 14, pp. 1728–1741, 2007
3. Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
   European Journal of Human Genetics, vol. 15, no. 2, Article ID 5201744, 4 pages, 2007
4. Collagen XXVII Is Developmentally Regulated and Forms Thin Fibrillar Structures Distinct from Those of Classical Vertebrate Fibrillar Collagens
   Journal of Biological Chemistry, vol. 282, no. 17, pp. 12791–12795, 2007
5. COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
   European Journal of Human Genetics, vol. 13, no. 5, Article ID 5201374, 8 pages, 2005
6. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
   European Journal of Human Genetics, vol. 13, no. 3, Article ID 5201314, 9 pages, 2005
7. British Society for Matrix Biology Autumn Meeting Joint with the UK Tissue & Cell Engineering Society, University of Bristol, UK
   International Journal of Experimental Pathology, vol. 86, no. 3, pp. A1–A56, 2005
8. Multiple epiphyseal dysplasia mutations inMATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
   Human Mutation, vol. 26, no. 6, pp. 557–565, 2005
9. Missense mutations in the   strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
   Journal of Medical Genetics, vol. 41, no. 1, pp. 52–59, 2004
10. A disorder resembling pseudoachondroplasia but without COMP mutation
    American Journal of Medical Genetics Part A, vol. 132A, no. 1, pp. 20–24, 2004
11. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients
    American Journal of Medical Genetics, vol. 125A, no. 3, pp. 278–284, 2004
12. Review: Clinical Variability and Genetic Heterogeneity in Multiple Epiphyseal Dysplasia
    Pediatric Pathology & Molecular Medicine, vol. 22, no. 1, pp. 53–75, 2003
13. Current Opinion in Orthopedics, vol. 13, no. 5, pp. 333–338, 2002
14. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations
    Human Mutation, vol. 19, no. 5, pp. 465–478, 2002
15. Cartilage Oligomeric Matrix Protein Interacts with Type IX Collagen, and Disruptions to These Interactions Identify a Pathogenetic Mechanism in a Bone Dysplasia Family
    Journal of Biological Chemistry, vol. 276, no. 8, pp. 6046–6055, 2001
16. Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes
    European Journal of Human Genetics, vol. 9, no. 8, Article ID 5200690, 6 pages, 2001
17. Nature Genetics, vol. 28, no. 4, pp. 393–396, 2001
18. Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype
    Pediatric Radiology, vol. 31, no. 1, pp. 10–18, 2001
19. Identification in Vitreous and Molecular Cloning of Opticin, a Novel Member of the Family of Leucine-rich Repeat Proteins of the Extracellular Matrix
    Journal of Biological Chemistry, vol. 275, no. 3, pp. 2123–2129, 2000
20. Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia
    Matrix Biology, vol. 19, no. 2, pp. 121–128, 2000
21. Molecular diagnosis is important to confirm suspected pseudoachondroplasia
    Journal of Medical Genetics, vol. 37, no. 1, pp. 64–65, 2000
22. Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
    Human Molecular Genetics, vol. 8, no. 1, pp. 123–128, 1999
23. Identification of Novel pro-[b.alpha]2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia
    The American Journal of Human Genetics, vol. 65, no. 1, pp. 31–38, 1999
24. Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum
    The American Journal of Human Genetics, vol. 62, no. 2, pp. 311–319, 1998
25. Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS (1997): Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family. Am J Med Genet 68:396-400.
    American Journal of Medical Genetics, vol. 71, no. 4, pp. 494–494, 1997
26. Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family
    American Journal of Medical Genetics, vol. 68, no. 4, pp. 396–400, 1997
27. High-Resolution Genetic and Physical Mapping of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Mutations at Chromosome 19p13.1-p12
    Genomics, vol. 28, no. 3, pp. 513–519, 1995
28. A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix
    Human Genetics, vol. 93, no. 3, pp. 236–242, 1994