Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red de Cáncer (11)

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

2023

  1. Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger

    Journal of the National Comprehensive Cancer Network : JNCCN, Vol. 21, Núm. 7, pp. 743-752

  2. 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

2022

  1. Functional specialization of different PI3K isoforms for the control of neuronal architecture, synaptic plasticity, and cognition

    Science advances, Vol. 8, Núm. 47, pp. eabq8109

  2. Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

    European Journal of Human Genetics, Vol. 30, Núm. 9, pp. 1051-1059

2021

  1. A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer

    Genome Medicine, Vol. 13, Núm. 1

  2. Deciphering the complex interplay between pancreatic cancer, diabetes mellitus subtypes and obesity/BMI through causal inference and mediation analyses

    Gut, Vol. 70, Núm. 2, pp. 319-329

  3. The challenge of diagnosing constitutional mismatch repair deficiency syndrome in brain malignancies from young individuals

    International Journal of Molecular Sciences, Vol. 22, Núm. 9

2020

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

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

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