Fundación Pública Gallega de Medicina Genómica

2018

1. Agaricus bisporus supplementation reduces high-fat diet-induced body weight gain and fatty liver development

   Journal of Physiology and Biochemistry, Vol. 74, Núm. 4, pp. 635-646

2. A imparable revolución da Medicina Personalizada

   Revista Real Academia Galega de Ciencias, Núm. 37, pp. 24-25

3. A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk

   Cancer Research, Vol. 78, Núm. 18, pp. 5419-5430

4. 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

5. Ancestry analysis in rural Brazilian populations of African descent

   Forensic Science International: Genetics, Vol. 36, pp. 160-166

6. Assessment of genotyping tools applied in genetic susceptibility studies of periodontal disease: A systematic review

   Archives of Oral Biology, Vol. 92, pp. 38-50

7. Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

   Nature Genetics, Vol. 50, Núm. 7, pp. 928-936

8. Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

   American Journal of Kidney Diseases, Vol. 72, Núm. 3, pp. 411-418

9. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

   Human Mutation, Vol. 39, Núm. 12, pp. 2025-2039

10. Computational tools for splicing defect prediction in breast/ovarian cancer genes: How efficient are they at predicting RNA alterations?

    Frontiers in Genetics, Vol. 9, Núm. SEP

11. Congenital hyperinsulinism in two siblings with ABCC8 mutation: Same genotype, different phenotypes

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 5, pp. 560-565

12. De novo mutations (DNMs) in autism spectrum disorder (ASD): Pathway and network analysis

    Frontiers in Genetics, Vol. 9, Núm. SEP

13. Determination and diagnostic value of CA9 mRNA in peripheral blood of patients with oral leukoplakia

    Journal of Enzyme Inhibition and Medicinal Chemistry, Vol. 33, Núm. 1, pp. 951-955

14. Development of an isotoxic decision support system integrating genetic markers of toxicity for the implantation of a rectum spacer

    Acta Oncologica, Vol. 57, Núm. 11, pp. 1499-1505

15. FKBP5 polymorphisms and hypothalamic-pituitary-adrenal axis negative feedback in major depression and obsessive-compulsive disorder

    Journal of Psychiatric Research, Vol. 104, pp. 227-234

16. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

    Nature Communications, Vol. 9, Núm. 1

17. Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

    Oncotarget, Vol. 9, Núm. 25, pp. 17334-17348

18. Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation

    Stem Cell Research, Vol. 28, pp. 16-20

19. Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group

    JCO Precision Oncology, Vol. 2

20. Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

    Nature Communications, Vol. 9, Núm. 1