Publications by the researcher in collaboration with Ana Vega Gliemmo (14)

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

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

2019

  1. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

    Nature Communications, Vol. 10, Núm. 1

2011

  1. An update of in Silico tools for the prediction of pathogenesis in Missense variants

    Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198

2010

  1. Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: Germline mutations in TP53 and PTEN

    Clinical Genetics

  2. Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk

    British Journal of Haematology, Vol. 150, Núm. 4, pp. 473-479

2009

  1. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: A different spectrum of mutations?

    BMC Medical Genetics, Vol. 10

2007

  1. Ligneous conjunctivitis: A clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvement

    Virchows Archiv, Vol. 451, Núm. 4, pp. 815-821

  2. Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families

    BMC Medical Genetics, Vol. 8

2001

  1. Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.

    Human mutation, Vol. 18, Núm. 4, pp. 355

  2. Rapid genotyping of the M129V polymorphism of prion protein using real-time fluorescent PCR [5]

    Clinical Chemistry

  3. Rare HRAS1 alleles are a risk factor for the development of brain tumors

    Cancer, Vol. 92, Núm. 11, pp. 2920-2926

  4. The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications.

    Journal of medical genetics

2000

  1. Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions

    Clinical Chemistry, Vol. 46, Núm. 10, pp. 1574-1582