Gail C. Jackson

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

Gail C. Jackson, Lauréane Mittaz‐Crettol, Jacqueline Taylor et al. · Human Mutation · 2011 · 128 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Multiple epiphyseal dysplasia mutations inMATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

Sally L. Cotterill, Gail C. Jackson, Matthew Leighton et al. · Human Mutation · 2005 · 75 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

Outi Mäkitie, Geert Mortier, Malwina Czarny‐Ratajczak et al. · American Journal of Medical Genetics Part A · 2003 · 69 citations

Medicine, Genetics, Molecular Genetics +14

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

Gail C. Jackson, D. Marcus‐Soekarman, Irene Stolte‐Dijkstra et al. · American Journal of Medical Genetics Part A · 2010 · 60 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Novel and recurrent mutations in the C-terminal domain ofCOMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group

Jason Kennedy, Gail C. Jackson, Faye S. Barker et al. · Human Mutation · 2005 · 47 citations · Full text

Medicine, Genetics, Molecular Genetics +14