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  • Matthew S P Ho, Kwok Yeung Tsang, +11 authors Danny Chan
  • Biology, Medicine
  • Human molecular genetics
  • 2007 (First Publication: 15 May 2007)
  • Missense, nonsense and frame-shift mutations in the collagen X gene (COL10A1) result in metaphyseal chondrodysplasia type Schmid (MCDS). Complete degradation of mutant COL10A1 mRNA byContinue Reading
  • Katerina Michalickova, Miki Susic, Marcia C. Willing, Richard J. Wenstrup, William G. Cole
  • Biology, Medicine
  • Human molecular genetics
  • 1998 (First Publication: 1 February 1998)
  • Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder that severely impairs the structure and function of the skin, joints, eyes and blood vessels. We have identified mutationsContinue Reading
  • Outi Mäkitie, Ravi Savarirayan, +4 authors William G. Cole
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 2003 (First Publication: 15 October 2003)
  • Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) andContinue Reading
  • Outi Mäkitie, Miki Susic, Leanne Ward, Catherine Barclay, Francis H Glorieux, William G. Cole
  • Medicine, Biology
  • American journal of medical genetics. Part A
  • 2005 (First Publication: 1 September 2005)
  • The Schmid type of metaphyseal chondrodyplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones. It results from autosomal dominant mutations of COL10A1,Continue Reading
  • Outi Mäkitie, Miki Susic, William G. Cole
  • Medicine, Biology
  • Journal of orthopaedic research : official…
  • 2010 (First Publication: 1 November 2010)
  • Both dominant-negative and haploinsufficiency effects have been proposed in the pathogenesis of metaphyseal chondrodysplasia type Schmid (MCDS) due to nonsense and frame-shift mutations of COL10A1.Continue Reading