Xenética
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Instituto de Investigación Sanitaria Galicia Sur
Vigo, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria Galicia Sur (14)
2023
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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Human Mutation, Vol. 2023
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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Medicine, Vol. 15, Núm. 1
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Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Cancer Medicine, Vol. 12, Núm. 15, pp. 16142-16162
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Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
Journal of Medical Genetics, Vol. 60, Núm. 12, pp. 1186-1197
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Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Cancers, Vol. 15, Núm. 13
2022
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Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Genome Medicine, Vol. 14, Núm. 1
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Common variants in breast cancer risk loci predispose to distinct tumor subtypes
Breast Cancer Research, Vol. 24, Núm. 1
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study
British Journal of Sports Medicine, Vol. 56, Núm. 20, pp. 1157-1170
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium
Cancer Epidemiology Biomarkers and Prevention, Vol. 30, Núm. 4, pp. 623-642
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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203
2019
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Nature Communications, Vol. 10, Núm. 1
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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
American Journal of Human Genetics, Vol. 104, Núm. 1, pp. 21-34