Publicacións nas que colabora con Clara María Ruiz Ponte (63)

2023

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

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

2021

  1. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

    Scientific Reports, Vol. 11, Núm. 1

  2. Genetic susceptibility to CRC

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

2020

  1. 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. Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum

    Cancers, Vol. 11, Núm. 8

  2. Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula

    Nature Communications, Vol. 10, Núm. 1

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

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. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

    Gut, Vol. 64, Núm. 1, pp. 111-120

  2. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer

    Journal of Medical Genetics, Vol. 52, Núm. 7, pp. 498-502

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

    Scientific Reports, Vol. 5

  4. Susceptibilidad genética al cáncer colorrectal y a la respuesta al tratamiento quimioterápico

    Abordaje multidisciplinar de cáncer colorrectal (Andavira), pp. 411-424

  5. 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

  6. Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

    Genetics in Medicine, Vol. 17, Núm. 2, pp. 131-142

2014

  1. A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

    PLoS ONE, Vol. 9, Núm. 6

  2. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

    Human Genetics, Vol. 133, Núm. 5, pp. 525-534

  3. Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: Results from a multi-centric study

    PLoS ONE, Vol. 9, Núm. 1

  4. Correction: Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: Results from a multi-centric study (PLoS ONE)

    PLoS ONE

  5. Erratum: Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer (Genetics in Medicine (2014) DOI: 10.1038/gim.2014.89)

    Genetics in Medicine

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

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