Alanay, Yasemin

Top Publications

Top Publications Authored or Co-Authored by "Alanay, Yasemin"

• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

  Brain, Volume 143, No. 10, Year 2020, Citations 88
• Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

  American Journal of Human Genetics, Volume 86, No. 2, Year 2010, Citations 88
• Identification of CANT1 Mutations in Desbuquois Dysplasia

  American Journal of Human Genetics, Volume 85, No. 5, Year 2009, Citations 86
• 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