Publikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red de Cáncer (3)

2024

  1. Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells

    European Journal of Human Genetics, Vol. 32, Núm. 7, pp. 837-845

  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

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