Fundación Pública Galega de Medicina Xenómica
Centro asistencial
University of Copenhagen
Copenhague, Dinamarca
2026
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Consensus meta-analysis of genome-wide association studies for Alzheimer’s disease and related dementias
Nature Genetics
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Genomic risk model to implement precision prostate cancer screening in clinical care: the ProGRESS study
Nature Cancer, Vol. 7, Núm. 2, pp. 352-367
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Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages
Journal of Medical Genetics
2025
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Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
Nature Genetics, Vol. 57, Núm. 6, pp. 1389-1401
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Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer
npj Genomic Medicine, Vol. 10, Núm. 1
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The time has come for revising the rules of clozapine blood monitoring in Europe. A joint expert statement from the European Clozapine Task Force
European Psychiatry, Vol. 68, Núm. 1
2024
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A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer
Nature Communications , Vol. 15, Núm. 1
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A genome-wide association meta-analysis of all-cause and vascular dementia
Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995
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The European Health Data Space can be a boost for research beyond borders
Nature Medicine
2023
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A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93
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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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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074
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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050
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Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))
Nature communications
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Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206
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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294
2022
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Communications biology, Vol. 5, Núm. 1, pp. 1061
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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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Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation
Mutation Research - Reviews in Mutation Research, Vol. 789
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New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436