Publicacións (103) Publicacións de Clara Ruiz Ponte

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

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

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

  2. Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors)

    Virchows Archiv, Vol. 482, Núm. 3, pp. 615-623

  3. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

  4. Reply

    Gastroenterology

2022

  1. First international workshop of the ATM and cancer risk group (4-5 December 2019)

    Familial Cancer, Vol. 21, Núm. 2, pp. 211-227

2021

  1. A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients

    Clinical chemistry, Vol. 67, Núm. 3, pp. 518-533

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

    Scientific Reports, Vol. 11, Núm. 1

  3. Genetic susceptibility to CRC

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

  4. Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

    Familial Cancer, Vol. 20, Núm. 1, pp. 67-73

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. Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

    Gastroenterology

  3. 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. Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

    Cancer Cell, Vol. 35, Núm. 2, pp. 256-266.e5

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

    Nature Communications, Vol. 10, Núm. 1

  4. 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

  2. Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

    Journal of Genetics and Genomics