Jamie McDonald

9PUBLICATIONS
42CO-AUTHORS
HaematologyForensic epidemiologyEconometric and statistical methodsRespiratory diseasesEnvironmental epidemiology
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Publications (9)

|Apr 14, 2025
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-<i>ENG</i> and <i>ACVRL1</i>.

Desiree DeMille, Jamie McDonald, Carmelo Bernabeu

|Jul 27, 2024
Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT).

Kevin J Whitehead, Doruk Toydemir, Whitney Wooderchak-Donahue

|Dec 09, 2023
Reply to Eker et al. Comment on "Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. <i>J. Clin. Med.</i> 2023, <i>12</i>, 2704".

Alexandra Kilian, Giuseppe A Latino, Andrew J White

|Apr 13, 2023
Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT.

Alexandra Kilian, Giuseppe A Latino, Andrew J White

|Apr 09, 2021
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.

Joshua Hodgson, Lidia Ruiz-Llorente, Jamie McDonald

|Apr 18, 2020
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).

Jamie McDonald, Pinar Bayrak-Toydemir, Desiree DeMille

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Frequent Collaborators

3 joint publications

Kevin J Whitehead

3 joint publications

Pinar Bayrak-Toydemir

2 joint publications

Whitney Wooderchak-Donahue

2 joint publications

Marie E Faughnan