Publications by the researcher in collaboration with Clara Ruiz Ponte (12)

2024

  1. 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

2018

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

    Journal of Genetics and Genomics

2017

  1. POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

    Oncotarget, Vol. 8, Núm. 16, pp. 26732-26743

2016

  1. The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

    European Journal of Human Genetics, Vol. 24, Núm. 10, pp. 1501-1505

2014

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

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

2013

  1. Genetic susceptibility variants associated with colorectal cancer prognosis

    Carcinogenesis, Vol. 34, Núm. 10, pp. 2286-2291

  2. Risk of cancer in cases of suspected lynch syndrome without germline mutation

    Gastroenterology, Vol. 144, Núm. 5

2012

  1. COGENT (COlorectal cancer GENeTics) revisited

    Mutagenesis, Vol. 27, Núm. 2, pp. 143-151

2011

  1. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: Previously identified variants and mucins

    BMC Cancer, Vol. 11