Publicacions en col·laboració amb investigadors/es de Hospital Universitario 12 de Octubre (23)

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

2022

  1. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2021

  1. 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

  2. Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition

    PLoS Biology, Vol. 19, Núm. 5

  3. Minimal-moderate variation of human oral virome and microbiome in IgA deficiency

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Clinical and Pathological Characterization of Lynch-Like Syndrome

    Clinical Gastroenterology and Hepatology, Vol. 18, Núm. 2, pp. 368-374.e1

  2. Pancreatic Cancer Risk in Relation to Lifetime Smoking Patterns, Tobacco Type, and Dose-Response Relationships

    Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, Vol. 29, Núm. 5, pp. 1009-1018

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

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

  4. SEOM clinical guideline on hereditary colorectal cancer (2019)

    Clinical and Translational Oncology, Vol. 22, Núm. 2, pp. 201-212

2019

  1. Pancreatic cancer and autoimmune diseases: An association sustained by computational and epidemiological case–control approaches

    International Journal of Cancer, Vol. 144, Núm. 7, pp. 1540-1549

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. Primary constitutional MLH1 epimutations: a focal epigenetic event

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

  3. Risk of pancreatic cancer associated with family history of cancer and other medical conditions by accounting for smoking among relatives

    International Journal of Epidemiology, Vol. 47, Núm. 2, pp. 473-483

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

  2. Performance of a quantitative pcrbased assay and beta-D-glucan detection for diagnosis of invasive candidiasis in very-low-birth-weight preterm neonatal patients (candineo study)

    Journal of Clinical Microbiology, Vol. 55, Núm. 9, pp. 2752-2764

  3. Reduced risk of pancreatic cancer associated with asthma and nasal allergies

    Gut, Vol. 66, Núm. 2, pp. 314-322

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

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