Richard M. Pauli

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Frederick S. Kaplan, Meiqi Xu, Petra Seemann et al. · Human Mutation · 2008 · 436 citations

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti et al. · The American Journal of Human Genetics · 2004 · 363 citations · Full text

Sclerostin, Signal Transduction, Molecular Physiology +8

Natural history study of hereditary multiple exostoses

C. Luckert Wicklund, Richard M. Pauli, D. Johnston et al. · American Journal of Medical Genetics · 1995 · 316 citations

Pathology, Anatomy, Osteoporosis +17

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson, Melita Irving, Esra Asilmaz et al. · Nature Genetics · 2011 · 306 citations

Progressive Bone Loss, Craniofacial Disorder, Genetic Disorder +4

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

Jennifer Hurvitz, Wafaa M. Suwairi, Wim Van Hul et al. · Nature Genetics · 1999 · 277 citations

Autoimmune Disease, Disease Mechanism, Pathogenesis +3