Congenital disorders of glycosylation: narration of a story through its patents
Article in Orphanet Journal of Rare Diseases (August 2023)
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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
Article in Clinical Epigenetics (May 2022)
Computational methods to assist in the discovery of pharmacological chaperones for rare diseases
Article in Briefings in Bioinformatics (May 2022)