Instituto de Investigación Sanitaria Galicia Sur (IISGS)
Centro de investigación
Maastricht University Medical Centre
Maastricht, HolandaPublicacións en colaboración con investigadores/as de Maastricht University Medical Centre (11)
2023
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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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FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
European journal of human genetics : EJHG, Vol. 31, Núm. 5, pp. 578-587
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Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Cancers, Vol. 15, Núm. 13
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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CIRSE Clinical Practice Manual
CardioVascular and Interventional Radiology, Vol. 44, Núm. 9, pp. 1323-1353
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Correction to: CIRSE Clinical Practice Manual (CardioVascular and Interventional Radiology, (2021), 44, 9, (1323-1353), 10.1007/s00270-021-02904-3)
CardioVascular and Interventional Radiology
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
2017
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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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Redefining Cut-Points for High Symptom Burden of the Global Initiative for Chronic Obstructive Lung Disease Classification in 18,577 Patients With Chronic Obstructive Pulmonary Disease
Journal of the American Medical Directors Association, Vol. 18, Núm. 12, pp. 1097.e11-1097.e24