Lista de obras - Mitchell Machiela - Dominio Público Uruguay

A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

artículo científico publicado en 2015

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Association of type 2 diabetes susceptibility variants with advanced prostate cancer risk in the Breast and Prostate Cancer Cohort Consortium

artículo científico publicado en 2012

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

Body mass index and breast cancer survival: a Mendelian randomization analysis

artículo científico publicado en 2017

Characterization of breakpoint regions of large structural autosomal mosaic events

artículo científico publicado en 2017

Characterization of large structural genetic mosaicism in human autosome

artículo científico publicado en 2015

Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite

artículo científico publicado en 2015

Chromosome 17q12 variants contribute to risk of early-onset prostate cancer

artículo científico publicado en 2008

Chromosome 8q24 markers: risk of early-onset and familial prostate cancer.

artículo científico publicado en 2008

Common germline polymorphisms associated with breast cancer-specific survival

artículo científico publicado en 2015

Corrigendum re “Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma” [Eur Urol 2017;72:747–54]

scholarly article published in European Urology

Deep sequencing of HPV16 genomes: A new high-throughput tool for exploring the carcinogenicity and natural history of HPV16 infection

artículo científico publicado en 2015

Detectable clonal mosaicism in the human genome

artículo científico publicado en 2013

Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

artículo científico publicado en 2019

Evaluation of polygenic risk scores for predicting breast and prostate cancer risk

artículo científico publicado en 2011

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Functional characterization of the 12p12.1 renal cancer-susceptibility locus implicates BHLHE41.

artículo científico publicado en 2016

GWAS is going to the dogs

artículo científico publicado en 2014

Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma ⬇️

artículo científico publicado en 2017

Genetic variants associated with longer telomere length are associated with increased lung cancer risk among never-smoking women in Asia: a report from the female lung cancer consortium in Asia

artículo científico publicado en 2014

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

artículo científico publicado en 2019

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

artículo científico publicado en 2016

Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes

artículo científico publicado en 2020

Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer

artículo científico publicado en 2017

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

artículo científico publicado en 2020

Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility

scientific article published in Nature Communications

Genome-wide association study identifies multiple risk loci for renal cell carcinoma ⬇️

artículo científico publicado en 2017

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

scientific article published on 16 November 2020

Identification of novel genetic markers of breast cancer survival

artículo científico publicado en 2015

Integrating Clinical and Multiple Omics Data for Prognostic Assessment across Human Cancers.

artículo científico publicado en 2017

Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions

artículo científico publicado en 2015

LDassoc: an online tool for interactively exploring genome-wide association study results and prioritizing variants for functional investigation

artículo científico publicado en 2017

LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants

artículo científico publicado en 2015

LDpop: an interactive online tool to calculate and visualize geographic LD patterns

artículo científico publicado en 2020

LDtrait: an online tool for identifying published phenotype associations in linkage disequilibrium

scientific article published on 30 June 2020

Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident

artículo científico publicado en 2021

Landscape of Combination Immunotherapy and Targeted Therapy to Improve Cancer Management

artículo científico publicado en 2017

Limited evidence that cancer susceptibility regions are preferential targets for somatic mutation

artículo científico publicado en 2015

Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controls

artículo científico publicado en 2016

Mosaic Y Loss Is Moderately Associated with Solid Tumor Risk

scientific article published on 03 December 2018

Mosaic chromosome 20q deletions are more frequent in the aging population

artículo científico publicado en 2017

Mosaic chromosome Y loss and testicular germ cell tumor risk.

artículo científico publicado en 2017

Mosaic loss of chromosome Y is associated with common variation near TCL1A

artículo científico publicado en 2016

One thousand genomes imputation in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium aggressive prostate cancer genome-wide association study

artículo científico publicado en 2012

Outdoor air pollution and mosaic loss of chromosome Y in older men from the Cardiovascular Health Study

artículo científico publicado en 2018

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

artículo científico publicado en 2018

Re-ranking sequencing variants in the post-GWAS era for accurate causal variant identification

artículo científico publicado en 2013

Reply to 'Mosaic loss of chromosome Y in leukocytes matters'

artículo científico publicado en 2019

Scanning for clues to better use selective estrogen receptor modulators

artículo científico publicado en 2013

Sex specific associations in genome wide association analysis of renal cell carcinoma

scientific article published on 23 June 2019

The ageing genome, clonal mosaicism and chronic disease

artículo científico publicado en 2017

The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study ⬇️

scientific article published on 03 January 2019

Two susceptibility loci identified for prostate cancer aggressiveness

artículo científico publicado en 2015

Why Y? Down-regulation of chromosome Y genes potentially contributes to elevated cancer risk

scientific article published on 07 January 2020

Lista de obras de Mitchell Machiela

A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

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

Association of type 2 diabetes susceptibility variants with advanced prostate cancer risk in the Breast and Prostate Cancer Cohort Consortium

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

Body mass index and breast cancer survival: a Mendelian randomization analysis

Characterization of breakpoint regions of large structural autosomal mosaic events

Characterization of large structural genetic mosaicism in human autosome

Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite

Chromosome 17q12 variants contribute to risk of early-onset prostate cancer

Chromosome 8q24 markers: risk of early-onset and familial prostate cancer.

Common germline polymorphisms associated with breast cancer-specific survival

Corrigendum re “Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma” [Eur Urol 2017;72:747–54]

Deep sequencing of HPV16 genomes: A new high-throughput tool for exploring the carcinogenicity and natural history of HPV16 infection

Detectable clonal mosaicism in the human genome

Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

Evaluation of polygenic risk scores for predicting breast and prostate cancer risk

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

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

Functional characterization of the 12p12.1 renal cancer-susceptibility locus implicates BHLHE41.

GWAS is going to the dogs

Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma ⬇️

Genetic variants associated with longer telomere length are associated with increased lung cancer risk among never-smoking women in Asia: a report from the female lung cancer consortium in Asia

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes

Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility

Genome-wide association study identifies multiple risk loci for renal cell carcinoma ⬇️

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

Identification of novel genetic markers of breast cancer survival

Integrating Clinical and Multiple Omics Data for Prognostic Assessment across Human Cancers.

Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions

LDassoc: an online tool for interactively exploring genome-wide association study results and prioritizing variants for functional investigation

LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants

LDpop: an interactive online tool to calculate and visualize geographic LD patterns

LDtrait: an online tool for identifying published phenotype associations in linkage disequilibrium

Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident

Landscape of Combination Immunotherapy and Targeted Therapy to Improve Cancer Management

Limited evidence that cancer susceptibility regions are preferential targets for somatic mutation

Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controls

Mosaic Y Loss Is Moderately Associated with Solid Tumor Risk

Mosaic chromosome 20q deletions are more frequent in the aging population

Mosaic chromosome Y loss and testicular germ cell tumor risk.

Mosaic loss of chromosome Y is associated with common variation near TCL1A

One thousand genomes imputation in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium aggressive prostate cancer genome-wide association study

Outdoor air pollution and mosaic loss of chromosome Y in older men from the Cardiovascular Health Study

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

Re-ranking sequencing variants in the post-GWAS era for accurate causal variant identification

Reply to 'Mosaic loss of chromosome Y in leukocytes matters'

Scanning for clues to better use selective estrogen receptor modulators

Sex specific associations in genome wide association analysis of renal cell carcinoma

The ageing genome, clonal mosaicism and chronic disease

The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study ⬇️

Two susceptibility loci identified for prostate cancer aggressiveness

Why Y? Down-regulation of chromosome Y genes potentially contributes to elevated cancer risk