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List of works by Stephen Montgomery

A Bioinformatic Analysis of Integrative Mobile Genetic Elements Highlights Their Role in Bacterial Adaptation

scientific article published on 17 December 2019

Abundant associations with gene expression complicate GWAS follow-up

scientific article published on 01 May 2019

Allelic expression of deleterious protein-coding variants across human tissues

scientific article

Atheroprotective roles of smooth muscle cell phenotypic modulation and the TCF21 disease gene as revealed by single-cell analysis

scientific article published on 29 July 2019

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

scientific article published on 14 June 2013

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

scientific article published on 25 August 2016

Determining causality and consequence of expression quantitative trait loci

scientific article published on 26 April 2014

Diagnosing rare diseases after the exome

scientific article published on 17 December 2018

Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

scientific article published on 10 June 2020

Epistatic selection between coding and regulatory variation in human evolution and disease

scientific article

FAM13A affects body fat distribution and adipocyte function

scientific article published on 19 March 2020

Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus

scientific article published on 16 November 2018

Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms

article

Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse

scientific article published on 13 April 2015

Genetic effects on gene expression across human tissues

scientific article published in October 2017

Genetic regulation of gene expression and splicing during a 10-year period of human aging

scientific article published on 04 November 2019

Genotype-Based Test in Mapping Cis-Regulatory Variants from Allele-Specific Expression Data ⬇️

scientific article published on June 7, 2012

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

scientific article

Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion

scientific article published on 12 March 2019

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

scientific article published on 03 June 2019

Identifying causal variants and genes using functional genomics in specialized cell types and contexts

scientific article published on 17 July 2019

Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx

scientific article published on 11 September 2020

Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci

scientific article published on 08 July 2016

Large-Scale Phenome-Wide Association Study of Variants Demonstrates Protection Against Ischemic Stroke

scientific article published on 01 July 2018

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

scientific article published on 22 June 2017

Non-Coding Loss-of-Function Variation in Human Genomes

scientific article

Overexpression of the Cytokine BAFF and Autoimmunity Risk

scientific article

PATH-SCAN: a reporting tool for identifying clinically actionable variants

scientific article

PML nuclear bodies contribute to the basal expression of the mTOR inhibitor DDIT4

scientific article published on 23 March 2017

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

scientific article published on 4 June 2013

Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.

scientific article published on 24 June 2019

Performance of genomic medicine

scientific article (publication date: 23 December 2013)

Population-specific imputation of gene expression improves prediction of pharmacogenomic traits for African Americans

article

Proficiency Testing of Standardized Samples Shows Very High Interlaboratory Agreement for Clinical Next-Generation Sequencing-Based Oncology Assays

scientific article published on 30 October 2018

Properties of structural variants and short tandem repeats associated with gene expression and complex traits

scientific article published on 10 June 2020

Rare and common regulatory variation in population-scale sequenced human genomes

scientific article

Sex-biased genetic effects on gene regulation in humans

scientific article

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases

scientific article published on 26 October 2020

Systematic functional regulatory assessment of disease-associated variants.

scientific article published on 20 May 2013

The GTEx Consortium atlas of genetic regulatory effects across human tissues

scientific article

The impact of rare variation on gene expression across tissues

scientific article published in October 2017

The impact of sex on gene expression across human tissues

scientific article

The impact of structural variation on human gene expression

scientific article published on 3 April 2017

The landscape of genomic imprinting across diverse adult human tissues

scientific article published on 7 May 2015

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

scientific article published on 29 January 2015

Transcriptome and genome sequencing uncovers functional variation in humans

scientific article

Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture

scientific article

Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants

scientific article

Transcriptomic signatures across human tissues identify functional rare genetic variation

scientific article

Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing

scientific article

Ubiquitination of ABCE1 by NOT4 in Response to Mitochondrial Damage Links Co-translational Quality Control to PINK1-Directed Mitophagy.

scientific article

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

scientific article published on 01 October 2019

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

scientific article published on 2 March 2017

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