Publicaciones en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (3)

2024

  1. Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

  2. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

2020

  1. Comprehensive constitutional genetic and epigenetic characterization of lynch-like individuals

    Cancers, Vol. 12, Núm. 7, pp. 1-32