T Strachan

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

D. Gareth Evans, Susan Huson, Dian Donnai et al. · Journal of Medical Genetics · 1992 · 469 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

W.H. Irwin McLean, E.L. Rugg, Declan P. Lunny et al. · Nature Genetics · 1995 · 354 citations

Life Sciences, Genetics, Molecular Genetics +9

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

Neil A. Hanley, D.M. Hagan, Mark Clement-Jones et al. · Mechanisms of Development · 2000 · 332 citations

Medicine, Developmental Biology, Genetics +16

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

D. Gareth Evans, L. Trueman, Andrew J. Wallace et al. · Journal of Medical Genetics · 1998 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination

Neil A. Hanley, Steve Ball, Mark Clement-Jones et al. · Mechanisms of Development · 1999 · 176 citations

Medicine, Genetics, Oncology +17