Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (20)

2024

  1. A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

    Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28

2023

  1. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

  2. NAD pool as an antitumor target against cancer stem cells in head and neck cancer

    Journal of Experimental and Clinical Cancer Research, Vol. 42, Núm. 1

  3. Reply

    Gastroenterology

2021

  1. Genetic susceptibility to CRC

    Foundations of Colorectal Cancer (Elsevier), pp. 513-518

2020

  1. Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

    Journal of Medical Genetics, Vol. 57, Núm. 10, pp. 677-682

  2. Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer

    Gut, Vol. 69, Núm. 8, pp. 1460-1471

2019

  1. Update on genetic predisposition to colorectal cancer and polyposis

    Molecular Aspects of Medicine, Vol. 69, pp. 10-26

2018

  1. Erratum: Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia (British Journal of Cancer (2017) 117 (1215-1223) DOI: 10.1038/bjc.2017.240)

    British Journal of Cancer

2017

  1. Candidate predisposing germline copy number variants in early onset colorectal cancer patients

    Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632

  2. Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer

    Gastroenterology, Vol. 152, Núm. 5, pp. 983-986.e6

2016

  1. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)

    Carcinogenesis, Vol. 37, Núm. 8, pp. 751-758

2015

  1. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    Gastroenterology, Vol. 149, Núm. 4, pp. 1017-1029.e3

  2. Recurrent Coding Sequence Variation Explains only A Small Fraction of the Genetic Architecture of Colorectal Cancer

    Scientific Reports, Vol. 5

  3. Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations

    International Journal of Cancer, Vol. 137, Núm. 8, pp. 1870-1878

2014

  1. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: Suggestions of the European consortium 'Care for CMMRD' (C4CMMRD)

    Journal of Medical Genetics, Vol. 51, Núm. 6, pp. 355-365

  2. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 6, pp. 583-588

  3. The MLH1c.1852-1853delinsGC (p.K618A) variant in colorectal cancer: Genetic association study in 18,723 individuals

    PLoS ONE, Vol. 9, Núm. 4

2013

  1. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations

    Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318

  2. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency

    Clinical Genetics