Instituto de Investigación Sanitaria Galicia Sur (IISGS)
Centro de investigación
Helmholtz Zentrum München
Múnich, AlemaniaPublicacións en colaboración con investigadores/as de Helmholtz Zentrum München (10)
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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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
2022
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Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Genome Medicine, Vol. 14, Núm. 1
2021
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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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Genetic insights into biological mechanisms governing human ovarian ageing
Nature, Vol. 596, Núm. 7872, pp. 393-397
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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
Scientific Reports, Vol. 11, Núm. 1
2018
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Towards frailty biomarkers: Candidates from genes and pathways regulated in aging and age-related diseases
Ageing Research Reviews, Vol. 47, pp. 214-277
2008
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The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss
PLoS Genetics, Vol. 4, Núm. 10