Wallis, Gillian A.

Top Publications

Top Publications Authored or Co-Authored by "Wallis, Gillian A."

• 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
• X-linked mixed deafness with stapes fixation in a Mauritian kindred: Linkage to Xq probe pDP34

  Genomics, Volume 3, No. 4, Year 1988, Citations 62
• Ehlers Danlos syndrome type VIIB: Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section

  Journal of Biological Chemistry, Volume 267, No. 13, Year 1992, Citations 54
• Osteogenesis imperfecta type III: Mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible

  Journal of Medical Genetics, Volume 30, No. 6, Year 1993, Citations 52
• 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