Marta
Santamariña Pena
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublications in collaboration with researchers from Complexo Hospitalario Universitario de Santiago (6)
2022
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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
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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
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
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
2019
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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
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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