2022

1. Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

   Thrombosis and Haemostasis, Vol. 122, Núm. 8, pp. 1369-1378

2. Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

   Blood, Vol. 140, Núm. 2, pp. 140-151