Lista de obras - Laura Fachal - Dominio Público Uruguay

A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity

artículo científico publicado en 2014

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

artículo científico publicado en 2012

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

artículo científico publicado en 2019

A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.

artículo científico publicado en 2014

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

artículo científico publicado en 2018

ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications

artículo científico publicado en 2018

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

article

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

artículo científico publicado en 2018

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

scholarly article published in Nature Genetics

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

scholarly article published in Nature Genetics

BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data

artículo científico publicado en 2011

BeyondBRCA1andBRCA2wild-type breast and/or ovarian cancer families: germline mutations inTP53andPTEN

artículo científico publicado en 2009

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

Candidate Causal Variants at the 8p12 Breast Cancer Risk Locus Regulate DUSP4

artículo científico publicado en 2020

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Chromatin interactome mapping at 139 independent breast cancer risk signals

artículo científico publicado en 2020

Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity

artículo científico publicado en 2016

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

artículo científico publicado en 2014

EGFR testing and clinical management of advanced NSCLC: a Galician Lung Cancer Group study (GGCP 048-10)

artículo científico publicado en 2016

Establishment of a Radiogenomics Consortium

artículo científico publicado en 2010

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

article

Evaluation 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

artículo científico publicado en 2013

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

artículo científico publicado en 2020

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

artículo científico publicado en 2018

From candidate gene studies to GWAS and post-GWAS analyses in breast cancer

artículo científico publicado en 2015

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

artículo científico publicado en 2021

Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer

artículo científico publicado en 2013

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

artículo científico publicado en 2011

Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

article

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

artículo científico publicado en 2017

Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Multiple local and recent founder effects of TGM1 in Spanish families

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

article

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

artículo científico publicado en 2014

Non-coding RNAs underlie genetic predisposition to breast cancer

artículo científico publicado en 2020

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

scientific article published on 18 February 2020

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

artículo científico publicado en 2019

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

artículo científico publicado en 2017

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

artículo científico publicado en 2019

REQUITE: A prospective multicentre cohort study of patients undergoing radiotherapy for breast, lung or prostate cancer

artículo científico publicado en 2019

Radiogenomics Consortium Genome-Wide Association Study Meta-analysis of Late Toxicity after Prostate Cancer Radiotherapy

article

Radiogenomics: radiobiology enters the era of big data and team science

artículo científico publicado en 2014

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

artículo científico publicado en 2020

TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients

article

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

artículo científico publicado en 2016

Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

artículo científico publicado en 2021

Lista de obras de Laura Fachal

A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications

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

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Association analysis identifies 65 new breast cancer risk loci.

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

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data

BeyondBRCA1andBRCA2wild-type breast and/or ovarian cancer families: germline mutations inTP53andPTEN

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

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

Candidate Causal Variants at the 8p12 Breast Cancer Risk Locus Regulate DUSP4

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

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

Chromatin interactome mapping at 139 independent breast cancer risk signals

Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

EGFR testing and clinical management of advanced NSCLC: a Galician Lung Cancer Group study (GGCP 048-10)

Establishment of a Radiogenomics Consortium

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

Evaluation 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

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

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

From candidate gene studies to GWAS and post-GWAS analyses in breast cancer

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

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

Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes

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

Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease

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

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.

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

Multiple local and recent founder effects of TGM1 in Spanish families

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

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

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

Non-coding RNAs underlie genetic predisposition to breast cancer

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

REQUITE: A prospective multicentre cohort study of patients undergoing radiotherapy for breast, lung or prostate cancer

Radiogenomics Consortium Genome-Wide Association Study Meta-analysis of Late Toxicity after Prostate Cancer Radiotherapy

Radiogenomics: radiobiology enters the era of big data and team science

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction