Pinar Bayrak-Toydemir
4PUBLICATIONS
33CO-AUTHORS
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Publications (4)
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|Jul 15, 2025
A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications.Ariel Tarrell, Jessika Weber, Reem Shawar
|Apr 14, 2025
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1.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
|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
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Frequent Collaborators
3 joint publications
Jamie McDonald
2 joint publications
Carmelo Bernabeu
1 joint publications
Joshua Hodgson
1 joint publications
Lidia Ruiz-Llorente
1 joint publications
Oliver Quarrell
1 joint publications
Jennifer Martin
1 joint publications
David Moore
1 joint publications
Katie Bergstrom
1 joint publications
Whitney Wooderchak-Donahue
1 joint publications
Nicholas W Morrell
