R M Winter

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +23

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta et al. · Human Molecular Genetics · 1999 · 605 citations

Genotype-phenotype Correlations, Mendelian Disorder, Malignant Disease +15

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

A K Ryan, K. Bartlett, Peter T. Clayton et al. · Journal of Medical Genetics · 1998 · 234 citations · Full text

Clinical Disorders, Smith-lemli-opitz Syndrome, Mendelian Disorder +9

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

Frances R. Goodman, Stefan Mundlos, Yasuteru Muragaki et al. · Proceedings of the National Academy of Sciences · 1997 · 212 citations · Full text

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome

M. OIdridge, Andrew O.M. Wilkie, S.F. SIaney et al. · Human Molecular Genetics · 1995 · 142 citations

Sclerostin, Human Growth, Genetics +21