Wellcome Trust Centre for Cell-matrix Research

Top Publications

Top Publications Authored or Co-Authored in "Wellcome Trust Centre for Cell-matrix Research"

• A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis

  American Journal of Human Genetics, Volume 77, No. 3, Year 2005, Citations 143
• Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia

  South African Medical Journal, Volume 105, No. 7, Year 2015, Citations 50
• Collagen XXVII organises the pericellular matrix in the growth plate

  PLoS ONE, Volume 6, No. 12, Article e29422, Year 2011, Citations 43
• Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

  American Journal of Human Genetics, Volume 89, No. 6, Year 2011, Citations 32
• Cell-based phenotypic drug screening identifies luteolin as candidate therapeutic for nephropathic cystinosis

  Journal of the American Society of Nephrology, Volume 31, No. 7, Year 2020, Citations 19