Marta
Santamariña Pena
![Foto de Marta](/img/nophoto.png)
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University of Cologne
Colonia, AlemaniaPublicacións en colaboración con investigadores/as de University of Cologne (5)
2020
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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
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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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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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