Laura
Fachal Vilar
Publicacións nas que colabora con Laura Fachal Vilar (19)
2021
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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
2018
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Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
Nature Communications, Vol. 9, Núm. 1
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Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Nature Communications, Vol. 9, Núm. 1
2017
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Association analysis identifies 65 new breast cancer risk loci
Nature, Vol. 551, Núm. 7678, pp. 92-94
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778
2016
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Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer
EBioMedicine, Vol. 10, pp. 150-163
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Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies
Scientific Reports, Vol. 6
2014
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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
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Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis
British Journal of Dermatology
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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
2013
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CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families
Clinical and Translational Oncology
2012
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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
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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
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TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients
Radiotherapy and Oncology, Vol. 103, Núm. 2, pp. 206-209
2011
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An update of in Silico tools for the prediction of pathogenesis in Missense variants
Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198
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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
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Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: Germline mutations in TP53 and PTEN
Clinical Genetics
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The genomics serving pediatrics in the investigation of the multifactorial disease
Acta Pediatrica Espanola, Vol. 68, Núm. 2, pp. 55-60