I D Young

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Jamie W. Foster, M. Dominguez-Steglich, Silvana Guioli et al. · Nature · 1994 · 1.6K citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +10

A clinical and genetic study of campomelic dysplasia.

Salah Mansour, C. Michael Hall, Marcus Pembrey et al. · Journal of Medical Genetics · 1995 · 252 citations · Full text

Developmental Anomaly, Infertility, Mendelian Disorder +13

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Víctor L. Ruiz‐Pérez, Stuart W. Tompson, J. Helen Blair et al. · The American Journal of Human Genetics · 2003 · 229 citations · Full text

Developmental Biology, Genetic Disorder, Medicine +5

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

Cheni Kwok, P A Weller, Silvana Guioli et al. · PubMed · 1995 · 205 citations

Inactivating Mutation in the Human Parathyroid Hormone Receptor Type 1 Gene in Blomstrand Chondrodysplasia

Andrew C. Karaplis, Bin He, Matthew Nguyen et al. · Endocrinology · 1998 · 180 citations