Smithson, Sarah F.

Top Publications

Top Publications Authored or Co-Authored by "Smithson, Sarah F."

• A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

  American Journal of Medical Genetics, Part A, Volume 167, No. 3, Year 2015, Citations 70
• Schimke immunoosseous dysplasia: Suggestions of genetic diversity

  Human Mutation, Volume 28, No. 3, Year 2007, Citations 61
• Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations

  PLoS ONE, Volume 11, No. 3, Article e0150555, Year 2016, Citations 38
• Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 160 C, No. 3, Year 2012, Citations 31
• Schimke immunoosseous dysplasia: Defining skeletal features

  European Journal of Pediatrics, Volume 169, No. 7, Year 2010, Citations 30