Pilar Guatibonza Moreno

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome

A. Masood, A. Bertoli-Avella, R. Halwani, 2022, Frontiers in Genetics.

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.

K. Kandaswamy, L. Pardo, A. Bertoli-Avella, 2023, European journal of human genetics : EJHG.