Publicacións (45) Publicacións nas que participase algún/ha investigador/a

2021

  1. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Nature Communications, Vol. 12, Núm. 1

  2. Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

    Cell Reports Medicine, Vol. 2, Núm. 4

  3. Association of accelerated dynamics of telomere sequence loss in peripheral blood leukocytes with incident knee osteoarthritis in Osteoarthritis Initiative cohort

    Scientific Reports, Vol. 11, Núm. 1

  4. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

    Breast cancer research : BCR, Vol. 23, Núm. 1, pp. 86

  5. Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium

    Cancer Epidemiology Biomarkers and Prevention, Vol. 30, Núm. 4, pp. 623-642

  6. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  7. CSVS, a crowdsourcing database of the Spanish population genetic variability

    Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137

  8. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

    British Journal of Cancer, Vol. 124, Núm. 4, pp. 842-854

  9. Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk

    Journal of the National Cancer Institute, Vol. 113, Núm. 3, pp. 329-337

  10. Common Susceptibility Loci for Male Breast Cancer

    Journal of the National Cancer Institute, Vol. 113, Núm. 4, pp. 453-461

  11. Design of a digital-PCR assay to quantify fragmented human mitochondrial DNA

    Environmental and Molecular Mutagenesis, Vol. 62, Núm. 6, pp. 364-373

  12. Development of a method for generating SNP interaction-aware polygenic risk scores for radiotherapy toxicity

    Radiotherapy and Oncology, Vol. 159, pp. 241-248

  13. Executive Functioning: A Mediator Between Sensory Processing and Behaviour in Autism Spectrum Disorder

    Journal of Autism and Developmental Disorders, Vol. 51, Núm. 6, pp. 2091-2103

  14. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

    Scientific Reports, Vol. 11, Núm. 1

  15. Exploring the biological role of postzygotic and germinal de novo mutations in ASD

    Scientific Reports, Vol. 11, Núm. 1

  16. Free circulating DNA and DNase activity in the ejaculates of men with spinal cord injury

    Spinal Cord, Vol. 59, Núm. 2, pp. 167-174

  17. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

    American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203

  18. GRASP1 ubiquitination regulates AMPA receptor surface expression and synaptic activity in cultured hippocampal neurons

    FASEB Journal, Vol. 35, Núm. 8

  19. Genetic diversity of drug-related genes in native americans of the brazilian amazon

    Pharmacogenomics and Personalized Medicine, Vol. 14, pp. 117-133

  20. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1