Ana
Vega Gliemmo
Instituto de Investigación Sanitaria La Fe
Valencia, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria La Fe (9)
2021
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Nature Communications, Vol. 12, Núm. 1
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Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))
Nature communications
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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737
2020
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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
Breast cancer research : BCR, Vol. 22, Núm. 1, pp. 108
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Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D
Journal of the National Cancer Institute, Vol. 112, Núm. 12, pp. 1242-1250
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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Genetics in Medicine, Vol. 22, Núm. 10, pp. 1653-1666
2019
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Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
International Journal of Cancer, Vol. 145, Núm. 2, pp. 401-414
2018
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