Peter S. Harper

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

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Russell G. Snell, John MacMillan, Jeremy P. Cheadle et al. · Nature Genetics · 1993 · 719 citations

Life Sciences, Genetics, Molecular Genetics +14

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

Susan Huson, D. A. S. Compston, Peggy Clark et al. · Journal of Medical Genetics · 1989 · 544 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats

David C. Rubinsztein, Jayne Leggo, Rhian Coles et al. · HAL (Le Centre pour la Communication Scientifique Directe) · 1996 · 468 citations

Life Sciences, Genetics, Molecular Genetics +10

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

Kay E. Davies, P. Pearson, Peter S. Harper et al. · Nucleic Acids Research · 1983 · 393 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8