T Strachan

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Newbury-Ecob Ra, David I. Wilson, T Strachan et al. · Nature Genetics · 1997 · 925 citations

Developmental Anomaly, Genetic Disorder, Genetics +6

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 · 466 citations · Full text

Neuro-oncology, Mendelian Disorder, Genetic Disorder +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 · 353 citations

Inborn Error Of Immunity, Allergy, Keratin 16 +1

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 · 329 citations

Developmental Biology, Germ Cell Fate, Sex Determination +12

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 · 222 citations · Full text