Publicacións nas que colabora con Marta Santamariña Pena (9)
2020
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
2014
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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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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
2013
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CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families
Clinical and Translational Oncology
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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
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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
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An update of in Silico tools for the prediction of pathogenesis in Missense variants
Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198
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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