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Minisatellite repeat coding as a digital approach to DNA typing AJ Jeffreys, A MacLeod, K Tamaki, DL Neil, DG Monckton Nature 354 (6350), 204-209, 1991 | 564 | 1991 |
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Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion M Gomes-Pereira, MT Fortune, L Ingram, JP McAbney, DG Monckton Human molecular genetics 13 (16), 1815-1825, 2004 | 224 | 2004 |
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Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients L Martorell, DG Monckton, J Gamez, KJ Johnson, I Gich, AL de Munain, ... Human molecular genetics 7 (2), 307-312, 1998 | 202 | 1998 |
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 … C Braida, RKA Stefanatos, B Adam, N Mahajan, HJM Smeets, F Niel, ... Human molecular genetics 19 (8), 1399-1412, 2010 | 191 | 2010 |
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Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability MT Fortune, C Vassilopoulos, MI Coolbaugh, MJ Siciliano, DG Monckton Human Molecular Genetics 9 (3), 439-445, 2000 | 170 | 2000 |
Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands GJR Brock, NH Anderson, DG Monckton Human Molecular Genetics 8 (6), 1061-1067, 1999 | 163 | 1999 |
Hypermutable myotonic dystrophy CTG repeats in transgenic mice DG Monckton, MI Coolbaugh, KT Ashizawa, MJ Siciliano, CT Caskey Nature genetics 15 (2), 193-196, 1997 | 157 | 1997 |
MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1 M Flower, V Lomeikaite, M Ciosi, S Cumming, F Morales, K Lo, ... Brain 142 (7), 1876-1886, 2019 | 150 | 2019 |
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1) International Myotonic Dystrophy Consortium (IDMC) Neurology 54 (6), 1218-1221, 2000 | 150 | 2000 |
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes M Ciosi, A Maxwell, SA Cumming, DJH Moss, AM Alshammari, MD Flower, ... EBioMedicine 48, 568-580, 2019 | 144 | 2019 |
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CRISPR/Cas9-induced (CTG⋅ CAG) n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing EL Van Agtmaal, LM André, M Willemse, SA Cumming, ID Van Kessel, ... Molecular therapy 25 (1), 24-43, 2017 | 142 | 2017 |