Price, Sue M.

Top Publications

Top Publications Authored or Co-Authored by "Price, Sue M."

• Chromosome 7p disruptions in Silver Russell syndrome: Delineating an imprinted candidate gene region.

  Human Genetics, Volume 111, No. 4-5, Year 2002, Citations 83
• Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

  Journal of Neurology, Volume 259, No. 8, Year 2012, Citations 81
• 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
• The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

  Orphanet Journal of Rare Diseases, Volume 8, No. 1, Article 63, Year 2013, Citations 68