Karaca, Ender

Top Publications

Top Publications Authored or Co-Authored by "Karaca, Ender"

• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 95
• MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement

  Human Mutation, Volume 30, No. 2, Year 2009, Citations 94
• Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

  American Journal of Medical Genetics, Part A, Volume 185, No. 1, Year 2021, Citations 74
• 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
• Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

  American Journal of Human Genetics, Volume 97, No. 6, Year 2015, Citations 69