Anna Sbalchiero
2PUBLICATIONS
18CO-AUTHORS
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Publications (2)
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|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
|May 27, 2022
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.Anna Sbalchiero, Yasmin Abu Hweij, Tommaso Mazza
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Frequent Collaborators
2 joint publications
Carla Olivieri
1 joint publications
Desiree DeMille
1 joint publications
Jamie McDonald
1 joint publications
Carmelo Bernabeu
1 joint publications
Hilary Racher
1 joint publications
Claudia Cantarini
1 joint publications
Bryony A Thompson
1 joint publications
Luca Jovine
1 joint publications
Claire L Shovlin
1 joint publications
Sophie Dupuis-Girod
