Reed Pyeritz
Emeritus Professor · University of Pennsylvania Health System
Credentials: · · ·
History
- 1977–1978
- 1975–1977
- 1971–1975
Research
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Nature · 1991 · 1,612 citations
The revised Ghent nosology for the Marfan syndrome
Journal of Medical Genetics · 2010 · 1,490 citations
Nature Medicine · 1999 · 1,401 citations
37 papers
31 papers
26 papers
- EI
23 papers
18 papers
18 papers · 1 as a resident
18 papers
18 papers
Grants
- 2018–2022
Undiagnosed Diseases Network Clinical Site
National Human Genome Research Institute · U01
PI · $1.5M · Children's Hosp of Philadelphia
- 2007–2014
Penn Center for ELSI Research in Emerging Genetic Technologies in Health Care
National Human Genome Research Institute · P50
Contact PI · $6.2M · University of Pennsylvania
- 2005–2006
General Clinical Research Center
National Center for Research Resources · M01
Project lead · $6.9K · Children's Hosp of Philadelphia
- 1999–2000
Conference--Frontiers of Research on Marfan Syndrome an
National Institute of Arthritis and Musculoskeletal and Skin Diseases · R13
Contact PI · $22K · Allegheny University of Health Sciences
Clinical trials
- 2007–2016
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
Principal investigator · Completed
National Heart, Lung, and Blood Institute (NHLBI)