Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Radboud University Nijmegen Medical Centre
Nimega, HolandaPublicacións en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (30)
2024
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Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis
eBioMedicine, Vol. 100
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Comparison of the ABC and ACMG systems for variant classification
European Journal of Human Genetics
2023
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Germline mutations in WNK2 could be associated with serrated polyposis syndrome
Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567
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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Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842
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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
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
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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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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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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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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Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Scientific Reports, Vol. 9, Núm. 1
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Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype
Cancer Cell, Vol. 35, Núm. 2, pp. 256-266.e5
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Plasma lipid profiles discriminate bacterial from viral infection in febrile children
Scientific Reports, Vol. 9, Núm. 1
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Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)
Nature Communications
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Shared heritability and functional enrichment across six solid cancers
Nature Communications, Vol. 10, Núm. 1
2018
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A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk
Cancer Research, Vol. 78, Núm. 18, pp. 5419-5430
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Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group
JCO Precision Oncology, Vol. 2