Ana
Vega Gliemmo
Universitat Autònoma de Barcelona
Barcelona, EspañaPublications in collaboration with researchers from Universitat Autònoma de Barcelona (10)
2024
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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
2019
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, Núm. 1
2016
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Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients
Radiotherapy and Oncology, Vol. 121, Núm. 3, pp. 431-439
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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
Journal of Medical Genetics, Vol. 53, Núm. 8, pp. 548-558
2014
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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
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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
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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
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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
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Radiogenomics: Radiobiology enters the era of big data and team science
International Journal of Radiation Oncology Biology Physics
2013
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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