Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (18)

2019

  1. Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters

    Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 4, pp. 763-765

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. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    Human Molecular Genetics, Vol. 25, Núm. 11, pp. 2256-2268

  2. 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. Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): Delimitation and mechanism of three novel BRCA1 rearrangements

    PLoS ONE, Vol. 9, Núm. 3

  5. 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. Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria

    Dermatology, Vol. 227, Núm. 3, pp. 238-242

  2. CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families

    Clinical and Translational Oncology

  3. 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

  4. Evaluation of a 5-Tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: Inter-reviewer variability and promotion of minimum reporting guidelines

    Human Mutation, Vol. 34, Núm. 10, pp. 1424-1431

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

2010

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

    Clinical Genetics

2008

  1. CDK redundancy guarantees cell cycle progression in Rb-negative tumor cells independently of their p16 status

    Cell Cycle, Vol. 7, Núm. 13, pp. 1962-1972