Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Hospital Universitario Puerta de Hierro
Madrid, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario Puerta de Hierro (22)
2024
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Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry
Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264
2023
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A Genome-Wide Association Study of Small Cell Lung Cancer
Archivos de Bronconeumologia, Vol. 59, Núm. 10, pp. 645-650
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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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Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Clinical Kidney Journal, Vol. 16, Núm. 11, pp. 2011-2022
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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Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))
Nature communications
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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
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
2019
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Genome-wide association study of germline variants and breast cancer-specific mortality
British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657
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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
American Journal of Human Genetics, Vol. 104, Núm. 1, pp. 21-34
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Residential radon, genetic polymorphisms in DNA damage and repair-related
Lung Cancer, Vol. 135, pp. 10-15
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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 of 229,000 women identifies new candidate susceptibility genes for breast cancer
Nature Genetics, Vol. 50, Núm. 7, pp. 968-978
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Role of copy number variants in sudden cardiac death and related diseases: Genetic analysis and translation into clinical practice
European Journal of Human Genetics, Vol. 26, Núm. 7, pp. 1014-1025
2017
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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
PLoS ONE, Vol. 12, Núm. 8
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Association analysis identifies 65 new breast cancer risk loci
Nature, Vol. 551, Núm. 7678, pp. 92-94
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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
2015
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Genetic analysis, in silico prediction, and family segregation in long QT syndrome
European Journal of Human Genetics, Vol. 23, Núm. 1, pp. 79-85
2013
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Genetics of arrhythmogenic right ventricular cardiomyopathy
Journal of Medical Genetics, Vol. 50, Núm. 5, pp. 280-289