Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Complexo Hospitalario Universitario de Vigo
Vigo, EspañaPublicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Vigo (33)
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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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074
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Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206
2022
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Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score
Prostate cancer and prostatic diseases, Vol. 25, Núm. 4, pp. 755-761
2021
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Protein Extraction From FFPE Kidney Tissue Samples: A Review of the Literature and Characterization of Techniques
Frontiers in Medicine, Vol. 8
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Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0)
Nature Genetics
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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nature Genetics, Vol. 53, Núm. 1, pp. 65-75
2020
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Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
Neuron, Vol. 107, Núm. 2, pp. 292-305.e6
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Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation
PLoS ONE, Vol. 15, Núm. 2
2019
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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations
Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 5
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Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
Scientific Reports, Vol. 9, Núm. 1
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Correction to: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (Nature Genetics, (2018), 50, 7, (928-936), 10.1038/s41588-018-0142-8)
Nature Genetics
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Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)
Nature Communications
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Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters
Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 4, pp. 763-765
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Residential radon, genetic polymorphisms in DNA damage and repair-related
Lung Cancer, Vol. 135, pp. 10-15
2018
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ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications
Journal of Dermatological Science
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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
Nature Genetics, Vol. 50, Núm. 7, pp. 928-936
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Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
Nature Communications, Vol. 9, Núm. 1
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Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Nature Communications, Vol. 9, Núm. 1
2017
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Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation
British Journal of Dermatology