List of works by Mitchell Machiela

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

scientific article

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

scientific article published on 14 September 2014

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

scientific article published on 11 June 2018

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

scientific article

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

scientific article published in December 2017

Characterization of breakpoint regions of large structural autosomal mosaic events

scientific article published on 16 August 2017

Characterization of large structural genetic mosaicism in human autosome

journal article published in 2015

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

scientific article

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

scientific article published on August 2008

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

scientific article published on June 2008

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 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

scientific article

Detectable clonal mosaicism in the human genome

scientific article

Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

scientific article published on 08 March 2019

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

scientific article

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

journal article published in 2016

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

scientific article published on 11 June 2018

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

scientific article published on 07 July 2016

GWAS is going to the dogs

scientific article

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

scientific article published on 7 August 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

scientific article published on 29 December 2014

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

scientific article published on 01 January 2019

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

scientific article

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

scientific article published on 22 October 2020

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

scientific article

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

scientific article published on 27 April 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 ⬇️

scientific article

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

scientific article published on 18 April 2015

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

scientific article published on 5 December 2017

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

scientific article

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

scientific article published on 12 September 2017

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

scientific article

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

scientific article published on 10 January 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

scientific article published in 2021

Landscape of Combination Immunotherapy and Targeted Therapy to Improve Cancer Management

scientific article published on 26 April 2017

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

scientific article

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

scientific article

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

scientific article published on 13 February 2017

Mosaic chromosome Y loss and testicular germ cell tumor risk.

scientific article published on 9 March 2017

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

scientific article

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

scientific article published on 19 December 2012

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

scientific article published on 23 April 2018

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

scientific article published in Scientific Reports

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

scientific article

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

scientific article published on 01 January 2019

Scanning for clues to better use selective estrogen receptor modulators

scientific article

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

scientific article

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

scientific article published on 5 May 2015

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

scientific article published on 07 January 2020

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