Publicaciones en colaboración con investigadores/as de Hospital Universitari de Bellvitge (13)

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

2020

  1. Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization

    Cancers, Vol. 12, Núm. 11, pp. 1-16

  2. Risk of cancer in family members of patients with lynch-like syndrome

    Cancers, Vol. 12, Núm. 8, pp. 1-12

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

2018

  1. Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

    Gastroenterology, Vol. 154, Núm. 1, pp. 181-194.e20

  2. Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer

    Medicina Clinica, Vol. 151, Núm. 2, pp. 80.e1-80.e10

  3. Successful induction therapy with sequential CVD followed by high-dose lanreotide in for metastatic SDHB paraganglioma: Case report

    Journal of Clinical and Translational Endocrinology: Case Reports, Vol. 7, pp. 8-13

2017

  1. Increased Risk of Colorectal Cancer in Patients With Multiple Serrated Polyps and Their First-Degree Relatives

    Gastroenterology, Vol. 153, Núm. 1, pp. 106-112.e2

2016

  1. POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: Review of reported cases and recommendations for genetic testing and surveillance

    Genetics in Medicine, Vol. 18, Núm. 4, pp. 325-332

2015

  1. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

    Gastroenterology, Vol. 149, Núm. 3, pp. 563-566

2014

  1. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

    Human Molecular Genetics, Vol. 23, Núm. 13, pp. 3506-3512

  2. Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

    European Journal of Cancer, Vol. 50, Núm. 13, pp. 2241-2250