about
Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal diseaseComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingEvaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.Radiogenomics: radiobiology enters the era of big data and team science.Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients.BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data.Establishment of a Radiogenomics Consortium.Multiple local and recent founder effects of TGM1 in Spanish families.Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomesLarge genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.EGFR testing and clinical management of advanced NSCLC: a Galician Lung Cancer Group study (GGCP 048-10)Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity.Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate CancerNatural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies.The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.From candidate gene studies to GWAS and post-GWAS analyses in breast cancer.A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families.Association analysis identifies 65 new breast cancer risk loci.Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium.Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients.Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosisTGFβ1 SNPs and radio-induced toxicity in prostate cancer patientsCharacterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosisAnalysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effectsBeyondBRCA1andBRCA2wild-type breast and/or ovarian cancer families: germline mutations inTP53andPTENA transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancerAssociation analyses of more than 140,000 men identify 63 new prostate cancer susceptibility lociEvaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicityNo association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohortFine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Laura Fachal
@ast
Laura Fachal
@en
Laura Fachal
@es
Laura Fachal
@nl
type
label
Laura Fachal
@ast
Laura Fachal
@en
Laura Fachal
@es
Laura Fachal
@nl
prefLabel
Laura Fachal
@ast
Laura Fachal
@en
Laura Fachal
@es
Laura Fachal
@nl
P106
P21
P31
P496
0000-0002-7256-9752