Paul Rutland

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

Andrew O.M. Wilkie, Sarah F. Slaney, Michael Oldridge et al. · Nature Genetics · 1995 · 925 citations

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +9

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

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

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Maria Bitner‐Glindzicz, Keith Lindley, Paul Rutland et al. · Nature Genetics · 2000 · 324 citations

Infantile Hyperinsulinism, Mendelian Disorder, Genetic Disorder +9