Publicacións (66) Publicacións nas que participase algún/ha investigador/a

2014

  1. "New turns from old STaRs": Enhancing the capabilities of forensic short tandem repeat analysis

    Electrophoresis, Vol. 35, Núm. 21-22, pp. 3173-3187

  2. A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results

    Forensic Science International: Genetics, Vol. 10, Núm. 1, pp. 40-48

  3. A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

    PLoS ONE, Vol. 9, Núm. 6

  4. A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity

    Radiotherapy and Oncology, Vol. 111, Núm. 2, pp. 178-185

  5. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

    Human Genetics, Vol. 133, Núm. 5, pp. 525-534

  6. A genome-wide study of modern-day Tuscans: Revisiting Herodotus's theory on the origin of the Etruscans

    PLoS ONE, Vol. 9, Núm. 9

  7. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

    Journal of Medical Genetics, Vol. 51, Núm. 7, pp. 475-478

  8. A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1

    Nature Genetics, Vol. 46, Núm. 8, pp. 891-894

  9. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

    International Journal of Cancer, Vol. 134, Núm. 9, pp. 2088-2097

  10. Alcohol consumption and survival after a breast cancer diagnosis: A literature-based meta-analysis and collaborative analysis of data for 29,239 cases

    Cancer Epidemiology Biomarkers and Prevention, Vol. 23, Núm. 6, pp. 934-945

  11. Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: Results from a multi-centric study

    PLoS ONE, Vol. 9, Núm. 1

  12. Brugada syndrome and p.E61X_RANGRF

    Cardiology Journal, Vol. 21, Núm. 2, pp. 121-127

  13. Building a forensic ancestry panel from the ground up: The EUROFORGEN Global AIM-SNP set

    Forensic Science International: Genetics, Vol. 11, Núm. 1, pp. 13-25

  14. Cerebral and cerebellar MRI volumes in Williams syndrome

    Research in Developmental Disabilities, Vol. 35, Núm. 4, pp. 922-928

  15. Characterization of CYP1A2, CYP2C19, CYP3A4 and CYP3A5 polymorphisms in South Brazilians

    Molecular Biology Reports, Vol. 41, Núm. 3, pp. 1453-1460

  16. Common variant at 16p11.2 conferring risk of psychosis

    Molecular Psychiatry, Vol. 19, Núm. 1, pp. 108-114

  17. Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing

    Clinical Chemistry, Vol. 60, Núm. 2, pp. 341-352

  18. Comparison of the genetic background of different Colombian populations using the SNPforID 52plex identification panel

    International Journal of Legal Medicine, Vol. 128, Núm. 1, pp. 19-25

  19. Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: A report from the ENIGMA consortium

    Human Molecular Genetics, Vol. 23, Núm. 14, pp. 3666-3680

  20. Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers

    PLoS Genetics, Vol. 10, Núm. 7