Kitsiou-Tzeli, Sofia

Top Publications

Top Publications Authored or Co-Authored by "Kitsiou-Tzeli, Sofia"

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

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 95
• Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

  Human Mutation, Volume 35, No. 10, Year 2014, Citations 79
• The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  Genome Research, Volume 23, No. 9, Year 2013, 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
• Expanding CEP290 mutational spectrumin ciliopathies

  American Journal of Medical Genetics, Part A, Volume 149, No. 10, Year 2009, Citations 42