Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (82)

2023

  1. Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types

    JNCI Cancer Spectrum, Vol. 7, Núm. 6

2022

  1. Experimental Setup for Irradiation of Cell Cultures at L2A2

    Quantum Beam Science, Vol. 6, Núm. 1

2020

  1. Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

    Breast cancer research : BCR, Vol. 22, Núm. 1, pp. 108

  2. 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

  3. Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy

    Journal of the National Cancer Institute, Vol. 112, Núm. 2, pp. 179-190

  4. The CHEK2 variant C.349A>G is associated with prostate cancer risk and carriers share a common ancestor

    Cancers, Vol. 12, Núm. 11, pp. 1-17

2019

  1. 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

  2. Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

    Scientific Reports, Vol. 9, Núm. 1

  3. 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

  4. Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

    Scientific Reports, Vol. 9, Núm. 1

  5. 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

  6. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  7. Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

    International Journal of Cancer, Vol. 145, Núm. 2, pp. 401-414

2018

  1. 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

  2. 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

  3. 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

  4. 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

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

    Nature Communications, Vol. 9, Núm. 1

  6. 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

  7. 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