Sign inJoin waitlistJoin the waitlist

RP

Richard Pauli

Medical Genetics / Clinical Genetics (M.D.)

Credentials: · ·

History

Pediatrics
University of Washington-Seattle Campus
1975–1978
University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine
1971–1975

Research

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1
Human Mutation · 2009 · 340 citations
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
The American Journal of Human Genetics · 2004 · 267 citations
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Nature Genetics · 2011 · 235 citations

Janet Legare
17 papers
Julie Hoover-Fong
14 papers
Cory Smid
13 papers
MB
Michael Bober
10 papers
Marc Williams
8 papers
CS
Charles Scott
5 papers
EM
Elizabeth Mcpherson
5 papers
Cathleen Raggio
4 papers
DW
David Wargowski
4 papers
FJ
F Jacobsen
4 papers
Nara Sobreira
4 papers
Philip Giampietro
4 papers