2020

1. Assessing lysosomal disorders in the NGS era: Identification of novel rare variants

   International Journal of Molecular Sciences, Vol. 21, Núm. 17, pp. 1-18

2. Molecular characterization of a novel splicing mutation underlying mucopolysaccharidosis (MPS) type VI—Indirect proof of principle on its pathogenicity

   Diagnostics, Vol. 10, Núm. 2