Xenética
Servizo
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Erasmus University Medical Center
Róterdam, HolandaPublicacións en colaboración con investigadores/as de Erasmus University Medical Center (45)
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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A second update on mapping the human genetic architecture of COVID-19
Nature
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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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The impact of coding germline variants on contralateral breast cancer risk and survival
American Journal of Human Genetics, Vol. 110, Núm. 3, pp. 475-486
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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Incorporating progesterone receptor expression into the PREDICT breast prognostic model
European Journal of Cancer, Vol. 173, pp. 178-193
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Rare germline copy number variants (CNVs) and breast cancer risk
Communications biology, Vol. 5, Núm. 1, pp. 65
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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Breast cancer risk genes - Association analysis in more than 113,000 women
New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439
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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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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
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Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0)
Nature Genetics
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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nature Genetics, Vol. 53, Núm. 1, pp. 65-75
2020
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Cumulative Burden of Colorectal Cancer–Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer
Gastroenterology, Vol. 158, Núm. 5, pp. 1274-1286.e12
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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
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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Nature Genetics, Vol. 52, Núm. 6, pp. 572-581
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Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan
Nature Communications, Vol. 11, Núm. 1
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Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Scientific reports, Vol. 10, Núm. 1, pp. 9688
2019
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Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Nature Communications, Vol. 10, Núm. 1