Publicaciones en colaboración con investigadores/as de Institut d'Investigació Biomédica de Bellvitge (13)

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

  3. Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium

    Gastroenterologia y Hepatologia, Vol. 47, Núm. 3, pp. 293-318

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

2021

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

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

2018

  1. Primary constitutional MLH1 epimutations: a focal epigenetic event

    British Journal of Cancer, Vol. 119, Núm. 8, pp. 978-987

2015

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

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

2014

  1. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

    Nature Genetics, Vol. 46, Núm. 2, pp. 107-115

  2. GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

    Human Mutation, Vol. 35, Núm. 1, pp. 50-52

  3. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 3, pp. 260-266

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

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

2012

  1. Overexpression of guanylate cyclase activating protein 2 in rod photoreceptors in vivo leads to morphological changes at the synaptic ribbon

    PLoS ONE, Vol. 7, Núm. 8