Öunap, Katrin

Top Publications

Top Publications Authored or Co-Authored by "Öunap, Katrin"

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

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

  Journal of Medical Genetics, Volume 48, No. 2, Year 2011, Citations 141
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

  Journal of Pediatrics, Volume 239, Year 2021, Citations 100
• 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