Publicacións en colaboración con investigadores/as de Hospital Vall d'Hebron (16)

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. Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))

    European journal of human genetics : EJHG

  2. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

    European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362

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

2020

  1. Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    JAMA Oncology, Vol. 6, Núm. 8, pp. 1218-1230

  2. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

  3. The spectrum of fancm protein truncating variants in European breast cancer cases

    Cancers, Vol. 12, Núm. 2

2019

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

    npj Breast Cancer, Vol. 5, Núm. 1

2018

  1. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

    Human Mutation, Vol. 39, Núm. 12, pp. 2025-2039

  2. Computational tools for splicing defect prediction in breast/ovarian cancer genes: How efficient are they at predicting RNA alterations?

    Frontiers in Genetics, Vol. 9, Núm. SEP

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. 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

  3. 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

2012

  1. Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members

    Breast Cancer Research and Treatment, Vol. 132, Núm. 3, pp. 1009-1023

2011

  1. Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry

    Breast Cancer Research and Treatment, Vol. 128, Núm. 2, pp. 573-579