Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Commonwealth Scientific and Industrial Research Organisation
Canberra, AustraliaPublicacións en colaboración con investigadores/as de Commonwealth Scientific and Industrial Research Organisation (20)
2022
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Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541
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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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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
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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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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Non-coding RNAs underlie genetic predisposition to breast cancer
Genome Biology, Vol. 21, Núm. 1
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Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D
Journal of the National Cancer Institute, Vol. 112, Núm. 12, pp. 1242-1250
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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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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578
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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
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, 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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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Human Mutation, Vol. 39, Núm. 5, pp. 593-620
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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
Human Mutation, Vol. 39, Núm. 8, pp. 1126-1138
2017
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Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
Nature Communications, Vol. 8
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Nature Genetics, Vol. 49, Núm. 5, pp. 680-691
2014
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Common variant at 16p11.2 conferring risk of psychosis
Molecular Psychiatry, Vol. 19, Núm. 1, pp. 108-114
2013
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Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia
Nature Genetics, Vol. 45, Núm. 8, pp. 868-876
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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Neurogenetics, Vol. 14, Núm. 1, pp. 11-22