Publicacións (46) Publicacións nas que participase algún/ha investigador/a

2017

  1. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

    American Journal of Human Genetics, Vol. 101, Núm. 1, pp. 87-103

  2. A forensic multiplex of nine novel pentameric-repeat STRs

    Forensic Science International: Genetics, Vol. 29, pp. 154-164

  3. A new panel of SNPs to assess thyroid carcinoma risk: A pilot study in a Brazilian admixture population

    BMC Medical Genetics, Vol. 18, Núm. 1

  4. A pathway-based association study reveals variants from Wnt signalling genes contributing to asthma susceptibility

    Clinical and Experimental Allergy, Vol. 47, Núm. 5, pp. 618-626

  5. ABCC3 Polymorphisms and mRNA Expression Influence the Concentration of a Carboxylic Acid Metabolite in Patients on Clopidogrel and Aspirin Therapy

    Basic and Clinical Pharmacology and Toxicology, Vol. 120, Núm. 5, pp. 466-474

  6. Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

    PLoS ONE, Vol. 12, Núm. 8

  7. Aggressiveness of the tall cell variant of papillary thyroid carcinoma is independent of the tumor size and patient age

    Oncology Letters, Vol. 13, Núm. 5, pp. 3501-3507

  8. Alterations of gray and white matter morphology in obsessive compulsive disorder

    Psicothema, Vol. 29, Núm. 1, pp. 35-42

  9. Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ

    Scientific Reports, Vol. 7, Núm. 1

  10. Association analysis identifies 65 new breast cancer risk loci

    Nature, Vol. 551, Núm. 7678, pp. 92-94

  11. Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene

    Genes and Immunity, Vol. 18, Núm. 3, pp. 197-199

  12. Candidate predisposing germline copy number variants in early onset colorectal cancer patients

    Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632

  13. Copy number variation analysis of patients with intellectual disability from North-West Spain

    Gene, Vol. 626, pp. 189-199

  14. Differential effects of antiretrovirals on microbial translocation and gut microbiota composition of HIV-infected patients

    Journal of the International AIDS Society, Vol. 20, Núm. 1

  15. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  16. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

    Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313

  17. Evaluation of the Qiagen 140-SNP forensic identification multiplex for massively parallel sequencing

    Forensic Science International: Genetics, Vol. 28, pp. 35-43

  18. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

    British Journal of Cancer, Vol. 117, Núm. 6, pp. 876-884

  19. Forensic SNP genotyping with SNaPshot: Technical considerations for the development and optimization of multiplexed SNP assays

    Forensic science review, Vol. 29, Núm. 1, pp. 57-76

  20. Forensic genetics and genomics: Much more than just a human affair

    PLoS Genetics, Vol. 13, Núm. 9