Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Institut d'Investigació Biomédica de Bellvitge
Barcelona, EspañaPublicacións en colaboración con investigadores/as de Institut d'Investigació Biomédica de Bellvitge (39)
2024
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Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Nature Communications, Vol. 15, Núm. 1
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
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Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium
Gastroenterologia y Hepatologia, Vol. 47, Núm. 3, pp. 293-318
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)
Nature Genetics
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Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
Nature Communications, Vol. 14, Núm. 1
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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
Nature Genetics, Vol. 55, Núm. 1, pp. 89-99
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Genetically proxied glucose-lowering drug target perturbation and risk of cancer: a Mendelian randomisation analysis
Diabetologia, Vol. 66, Núm. 8, pp. 1481-1500
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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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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Remission of obesity and insulin resistance is not sufficient to restore mitochondrial homeostasis in visceral adipose tissue
Redox Biology, Vol. 54
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Genetics in Medicine, Vol. 24, Núm. 1, pp. 119-129
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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Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Scientific Reports, Vol. 11, Núm. 1
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How is COVID-19 affecting patients with obsessive–compulsive disorder? A longitudinal study on the initial phase of the pandemic in a Spanish cohort
European Psychiatry, Vol. 64, Núm. 1
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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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Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
JAMA Oncology, Vol. 6, Núm. 8, pp. 1218-1230
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Exploring genetic variants in obsessive compulsive disorder severity: A GWAS approach
Journal of Affective Disorders, Vol. 267, pp. 23-32