Çolak, Dilek

Top Publications

Top Publications Authored or Co-Authored by "Çolak, Dilek"

• Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

  Human Genetics, Volume 135, No. 3, Year 2016, Citations 194
• Age-Specific Gene Expression Signatures for Breast Tumors and Cross-Species Conserved Potential Cancer Progression Markers in Young Women

  PLoS ONE, Volume 8, No. 5, Article e63204, Year 2013, Citations 117
• Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

  Human Molecular Genetics, Volume 22, No. 11, Year 2013, Citations 87
• Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

  Human Mutation, Volume 43, No. 3, Year 2022, Citations 75
• Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

  Acta Neuropathologica, Volume 139, No. 3, Year 2020, Citations 69