Publicacións en colaboración con investigadores/as de Universitat Autònoma de Barcelona (9)

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

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

2019

  1. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    npj Breast Cancer, Vol. 5, Núm. 1

2016

  1. Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

    Journal of Medical Genetics, Vol. 53, Núm. 8, pp. 548-558

2014

  1. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

    International Journal of Cancer, Vol. 134, Núm. 9, pp. 2088-2097

  2. Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing

    Clinical Chemistry, Vol. 60, Núm. 2, pp. 341-352

  3. Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: A report from the ENIGMA consortium

    Human Molecular Genetics, Vol. 23, Núm. 14, pp. 3666-3680

  4. RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

    Breast Cancer Research and Treatment, Vol. 147, Núm. 1, pp. 133-143

2013

  1. Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

    Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618