Richard M. Pauli
University of Wisconsin–Madison(US)
Publications by Year
Research Areas
Connective tissue disorders research, Neonatal Respiratory Health Research, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Craniofacial Disorders and Treatments
Most-Cited Works
- → Maternal and fetal sequelae of anticoagulation during pregnancy(1980)997 cited
- → Achondroplasia: a comprehensive clinical review(2019)484 cited
- → Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1(2008)444 cited
- → Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux(2004)364 cited
- → Natural history study of hereditary multiple exostoses(1995)316 cited
- → Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss(2011)307 cited