DeJesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245–256 (2011).
Renton, A. E. et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257–268 (2011).
Crook, A. et al. The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling. Amyotroph. Lateral Scler. Frontotemporal Degener. 20, 310–316 (2019).
Klepek, H., Goutman, S. A., Quick, A., Kolb, S. J. & Roggenbuck, J. Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing. Neurol. Genet. 5, e301 (2019).
Gatchel, J. R. & Zoghbi, H. Y. Diseases of unstable repeat expansion: mechanisms and common principles. Nat. Rev. Genet. 6, 743–755 (2005).
Paulson, H. Repeat expansion diseases….