Publicacións en colaboración con investigadores/as de Institute Catalá Oncología (8)

2023

  1. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

    Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050

2022

  1. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

    Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944

  2. 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

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

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

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. 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

  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

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