2023

1. GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

   Platelets, Vol. 34, Núm. 1

2. Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation

   International journal of molecular sciences, Vol. 24, Núm. 6

3. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

   Blood, Vol. 141, Núm. 4, pp. 406-421