Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Universidad de Valladolid
Valladolid, EspañaPublicacións en colaboración con investigadores/as de Universidad de Valladolid (19)
2022
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A genome-wide association study of survival in patients with sepsis
Critical Care, Vol. 26, Núm. 1
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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
2018
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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
2015
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Exon array analysis reveals genetic heterogeneity in atypical femoral fractures. A pilot study
Molecular and Cellular Biochemistry, Vol. 409, Núm. 1-2, pp. 45-50
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Predicting proliferative vitreoretinopathy: Temporal and external validation of models based on genetic and clinical variables
British Journal of Ophthalmology, Vol. 99, Núm. 1, pp. 41-48
2013
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A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy
Investigative Ophthalmology and Visual Science, Vol. 54, Núm. 3, pp. 1665-1678
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Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles
Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618
2010
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A strong genetic association between the tumor necrosis factor locus and proliferative vitreoretinopathy: The Retina 4 Project
Ophthalmology, Vol. 117, Núm. 12
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Erratum: Prevalence of CYP2C9 polymorphisms in the south of Europe (Pharmacogenomics Journal (2009) DOI: 10.1038/tpj.2009.16))
Pharmacogenomics Journal
2009
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Prevalence of CYP2C9 polymorphisms in the south of Europe
Pharmacogenomics Journal, Vol. 9, Núm. 5, pp. 306-310
2008
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The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
Clinical Cancer Research, Vol. 14, Núm. 9, pp. 2861-2869
2006
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Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
Clinical Chemistry, Vol. 52, Núm. 8, pp. 1480-1485
2004
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The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population
International Journal of Cancer, Vol. 108, Núm. 1, pp. 54-56
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The variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations
International Journal of Cancer, Vol. 110, Núm. 6, pp. 845-849
2003
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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
Human Mutation, Vol. 22, Núm. 4, pp. 301-312
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Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations
European Journal of Human Genetics