Publicacions en què col·labora amb Clara María Ruiz Ponte (6)

2024

  1. 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

  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

2015

  1. 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

2013

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

    Gastroenterology, Vol. 144, Núm. 5

2012

  1. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer

    Gut, Vol. 61, Núm. 6, pp. 865-872

2011

  1. Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

    BMC Medical Genetics, Vol. 12