Kara, B., Köroğlu, Ç., Peltonen, K., Steinberg, R. C., Genç, H. M., Holtta-Vuori, M., Güven, A., Tolun, A.,et.al., "Severe Neurodegenerative Disease in Brothers with Homozygous Mutation in POLR1A", European Journal Of Human Genetics, 25, 3, 315-323, 2017.