Sue Malcolm

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

William Reardon, Robin M. Winter, Paul Rutland et al. · Nature Genetics · 1994 · 766 citations

Fibrosis, Mendelian Disorder, Human Growth +6

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

Ulf Korthäuer, Daniel Graf, Hans Werner Mages et al. · Nature · 1993 · 725 citations

Primary Immunodeficiency, Allergy, Autoimmune Disease +12

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Maximilian Muenke, Ute Schell, Andreas Hehr et al. · Nature Genetics · 1994 · 622 citations

Fibrosis, Mendelian Disorder, Common Mutation +8

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

Paul Rutland, Louise J. Pulleyn, William Reardon et al. · Nature Genetics · 1995 · 456 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Maria Immacolata Ferrante, Sally Feather, Alessandro Bulfone et al. · The American Journal of Human Genetics · 2001 · 348 citations · Full text

Genetic Disorder, Oral Cavity, Genetics +5