C McKeown

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

Life Sciences, Genetics, Molecular Genetics +16

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 673 citations

Life Sciences, Genetics, Molecular Biology +11

Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

Michael Bulman, Kenro Kusumi, Timothy M. Frayling et al. · Nature Genetics · 2000 · 392 citations

Medicine, Genetics, Molecular Genetics +14

Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation

Kenneth E. White, J. M. Segura Cabral, Siobhan I. Davis et al. · The American Journal of Human Genetics · 2005 · 320 citations · Full text

Medicine, Genetics, Molecular Genetics +12

PPIB Mutations Cause Severe Osteogenesis Imperfecta

Fleur S. van Dijk, I. M. Nesbitt, Eline H. Zwikstra et al. · The American Journal of Human Genetics · 2009 · 299 citations · Full text

Medicine, Genetics, Molecular Genetics +9