Didem Yücel

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Rıza Köksal Özgül, Anna M. Siemiatkowska, Didem Yücel et al. · The American Journal of Human Genetics · 2011 · 115 citations · Full text

Mendelian Disorder, Genetic Disorder, Exome Sequencing +11

Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

Rıza Köksal Özgül, Turgay Coşkun, Didem Yücel et al. · JIMD Reports · 2011 · 33 citations · Full text

Retinitis pigmentosa caused by mutations in the ciliary <i><scp>MAK</scp></i> gene is relatively mild and is not associated with apparent extra‐ocular features

Ramon A. C. van Huet, Anna M. Siemiatkowska, Rıza Köksal Özgül et al. · Acta Ophthalmologica · 2014 · 20 citations · Full text

Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

Didem Yücel, Murat Yılmaz, Ali Hakan Durukan et al. · Ophthalmic Genetics · 2012 · 10 citations