Lesley Heptinstall

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The natural history of Niemann–Pick disease type C in the UK

Jackie Imrie, Shyamal Dasgupta, G. T. N. Besley et al. · Journal of Inherited Metabolic Disease · 2006 · 130 citations

Life Sciences, Internal Medicine, Pathology +10

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

Jackie Imrie, Lesley Heptinstall, Stephen R Knight et al. · BMC Neurology · 2015 · 93 citations · Full text

Medicine, Neurology, Neuroscience +15

Niemann–Pick disease type C in adults

Jackie Imrie, S. Vijayaraghaven, C. Whitehouse et al. · Journal of Inherited Metabolic Disease · 2002 · 86 citations

Medicine, Internal Medicine, Pathology +5

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)

Elizabeth Vafiadaki, Alan Cooper, Lesley Heptinstall et al. · Archives of Disease in Childhood · 1998 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17