Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

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

Life Sciences, Genetics, Molecular Genetics +8

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.8K citations

Life Sciences, Genetics, Molecular Genetics +17

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti et al. · Cell · 1991 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +8

Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of <i>ZNF9</i>

Christina L. Liquori, K. Ricker, Melinda L. Moseley et al. · Science · 2001 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +9

Repeat instability: mechanisms of dynamic mutations

Christopher E. Pearson, Kerrie Nichol Edamura, John D. Cleary · Nature Reviews Genetics · 2005 · 914 citations

Life Sciences, Genetics, Molecular Biology +12