Publications by the researcher in collaboration with Laura Fachal Vilar (28)

2021

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

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

2019

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

    Scientific Reports, Vol. 9, Núm. 1

  2. 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. Association analysis identifies 65 new breast cancer risk loci

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

  2. 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

2015

  1. No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 168, Núm. 1, pp. 54-65

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. Evaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicity

    Radiotherapy and Oncology, Vol. 111, Núm. 2, pp. 199-205

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

    British Journal of Dermatology

  4. 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

  5. No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort

    Journal of Human Genetics, Vol. 59, Núm. 7, pp. 411-414

2013

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

    Clinical and Translational Oncology

  2. Cáncer de próstata: búsqueda de variantes genéticas causales y de susceptibilidad al desarrollo de toxicidad radioinducida

    Cáncer de próstata: búsqueda de variantes genéticas causales y de susceptibilidad al desarrollo de toxicidad radioinducida

  3. Indian Signatures in the Westernmost Edge of the European Romani Diaspora: New Insight from Mitogenomes

    PLoS ONE, Vol. 8, Núm. 10

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