Kerr, Bronwyn A.

Top Publications

Top Publications Authored or Co-Authored by "Kerr, Bronwyn A."

• 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
• FGFR1 mutations cause hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

  Journal of Medical Genetics, Volume 50, No. 9, Year 2013, Citations 66
• 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
• Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

  Nature Genetics, Volume 34, No. 2, Year 2003, Citations 25