Publicacións en colaboración con investigadores/as de Hospital General Universitario de Elche (4)

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

2023

  1. MLH1-methylated endometrial cancer under 60 years of age as the “sentinel” cancer in female carriers of high-risk constitutional MLH1 epimutation

    Gynecologic Oncology, Vol. 171, pp. 129-140

2019

  1. Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation

    Clinical Epigenetics, Vol. 11, Núm. 1