Wakeling, Emma L.

Top Publications

Top Publications Authored or Co-Authored by "Wakeling, Emma L."

• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

  American Journal of Human Genetics, Volume 87, No. 6, Year 2010, Citations 82
• Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

  American Journal of Medical Genetics, Part A, Volume 152 A, No. 10, Year 2010, Citations 72
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72
• 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