Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.1K citations · Full text

Dna, Engineering, Dna Analysis +20

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Marcy E. MacDonald · Cell · 1993 · 8.3K citations · Full text

Genome Instability, Novel Gene, Genetic Disorder +10

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi et al. · Cell · 1993 · 3.1K citations

Genetic Diseases, Genome Instability, Novel Gene +10

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn et al. · Nature · 1991 · 2.8K citations

Developmental Biology, Somatic Variant, Mendelian Disorder +6

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

Signal Transduction, Mendelian Disorder, Genetic Disorder +7