Publications by the researcher in collaboration with Ana Vega Gliemmo (50)

2026

  1. Splicing Predictions, Splicing Assays, and Variant Classification Using ACMG/AMP Guidelines: Challenges Observed with BRCA1 and BRCA2 Variants

    Clinical Chemistry

2019

  1. 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

2018

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

    Nature Communications, Vol. 9, Núm. 1

  2. Germline variation at 8q24 and prostate cancer risk in men of European ancestry

    Nature Communications, Vol. 9, Núm. 1

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2016

  1. Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer

    EBioMedicine, Vol. 10, pp. 150-163

  2. Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

    Scientific Reports, Vol. 6

2014

  1. 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

  2. Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis

    British Journal of Dermatology

  3. Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): Delimitation and mechanism of three novel BRCA1 rearrangements

    PLoS ONE, Vol. 9, Núm. 3

  4. RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

    Breast Cancer Research and Treatment, Vol. 147, Núm. 1, pp. 133-143

2013

  1. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    PLoS ONE, Vol. 8, Núm. 7

  2. CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families

    Clinical and Translational Oncology

2012

  1. Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients

    Radiotherapy and Oncology, Vol. 105, Núm. 3, pp. 321-328

  2. Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis

    International Journal of Dermatology, Vol. 51, Núm. 4, pp. 427-430

  3. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

    Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315

  4. TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients

    Radiotherapy and Oncology, Vol. 103, Núm. 2, pp. 206-209

2011

  1. An update of in Silico tools for the prediction of pathogenesis in Missense variants

    Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198

  2. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): Evidence of founder effects

    British Journal of Dermatology, Vol. 165, Núm. 4, pp. 906-911

2010

  1. Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: Germline mutations in TP53 and PTEN

    Clinical Genetics