Jamie McDonald

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

Marie E. Faughnan, Valerie A. Palda, Guadalupe García–Tsao et al. · Journal of Medical Genetics · 2009 · 1.1K citations

Life Sciences, Genetics, Genetic Counseling +16

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

Marie E. Faughnan, Johannes J. Mager, Steven W. Hetts et al. · Annals of Internal Medicine · 2020 · 504 citations · Full text

Medicine, Hematology, Genetic Counseling +14

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

Whitney Wooderchak‐Donahue, Jamie McDonald, Brendan O’Fallon et al. · The American Journal of Human Genetics · 2013 · 306 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Pathogenic variants that alter protein code often disrupt splicing

Rachel Soemedi, Kamil J. Cygan, Christy L. Rhine et al. · Nature Genetics · 2017 · 270 citations

Life Sciences, Genetics, Molecular Biology +12

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

Pinar Bayrak‐Toydemir, Jamie McDonald, Nurten Akarsu et al. · American Journal of Medical Genetics Part A · 2006 · 235 citations

Life Sciences, Genetics, Molecular Genetics +9