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

Signal Transduction, Mendelian Disorder, Genetic Disorder +7

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 · 713 citations

Genetic Analysis, Phenotypic Variation, Genetic Disorder +8

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 · 542 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +15

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

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

Bernd R. Seizinger, Guy A. Rouleau, Laurie J. Ozelius et al. · Cell · 1987 · 370 citations · Full text

Neuroregeneration, Developmental Biology, Peripheral Nerves +8