Fundación Pública Galega de Medicina Xenómica
Research center
University Hospital Heidelberg
Heidelberg, AlemaniaPublications in collaboration with researchers from University Hospital Heidelberg (20)
2024
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Comparison of the ABC and ACMG systems for variant classification
European Journal of Human Genetics
2023
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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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Communications biology, Vol. 5, Núm. 1, pp. 1061
2021
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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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Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019
Familial Cancer, Vol. 20, Núm. 1, pp. 67-73
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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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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Brain, Vol. 143, Núm. 10, pp. 2929-2944
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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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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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Erratum to: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia (Nature Communications, (2018), 9, 1, (1340), 10.1038/s41467-018-03178-z)
Nature Communications
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Nature Communications, Vol. 10, Núm. 1
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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
2018
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Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia
Nature Communications, Vol. 9, Núm. 1
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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
2017
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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
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778
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Recent progress of the ARegPKD registry study on autosomal recessive polycystic kidney disease
Frontiers in Pediatrics, Vol. 5