Jamie McDonald
University of Utah(US)
Publications by Year
Research Areas
Vascular Anomalies and Treatments, Tracheal and airway disorders, Vascular Malformations and Hemangiomas, Vascular Malformations Diagnosis and Treatment, Sharing Economy and Platforms
Most-Cited Works
- → International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia(2009)1,063 cited
- → Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era(2015)732 cited
- → Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia(2020)479 cited
- → Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis(2011)386 cited
- → BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia(2013)304 cited
- → Pathogenic variants that alter protein code often disrupt splicing(2017)261 cited
- → A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7(2006)235 cited
- → Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations*(2006)215 cited
- → Genetic testing for a BRCA1 mutation: Prophylactic surgery and screening behavior in women 2 years post testing(2003)198 cited
- → Intracranial Hemorrhage in Infants and Children With Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)(2002)131 cited