Lista de obras - Stephen Montgomery - Dominio Público Uruguay

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

artículo científico publicado en 2019

Abundant associations with gene expression complicate GWAS follow-up

artículo científico publicado en 2019

Allelic expression of deleterious protein-coding variants across human tissues

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Determining causality and consequence of expression quantitative trait loci

artículo científico

Diagnosing rare diseases after the exome

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2015

Genetic effects on gene expression across human tissues

artículo científico publicado en 2017

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

scientific article published on 04 November 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2020

Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Overexpression of the Cytokine BAFF and Autoimmunity Risk

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

Performance of genomic medicine

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

Sex-biased genetic effects on gene regulation in humans

artículo científico publicado en 2012

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

artículo científico publicado en 2020

Systematic functional regulatory assessment of disease-associated variants.

artículo científico publicado en 2013

The GTEx Consortium atlas of genetic regulatory effects across human tissues

artículo científico publicado en 2019

The impact of rare variation on gene expression across tissues

artículo científico publicado en 2017

The impact of sex on gene expression across human tissues

artículo científico publicado en 2020

The impact of structural variation on human gene expression

artículo científico publicado en 2017

The landscape of genomic imprinting across diverse adult human tissues

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Transcriptome and genome sequencing uncovers functional variation in humans

artículo científico publicado en 2013

Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Transcriptomic signatures across human tissues identify functional rare genetic variation

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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.

artículo científico publicado en 2017

Lista de obras de Stephen Montgomery

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

Abundant associations with gene expression complicate GWAS follow-up

Allelic expression of deleterious protein-coding variants across human tissues

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

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

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

Determining causality and consequence of expression quantitative trait loci

Diagnosing rare diseases after the exome

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

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

FAM13A affects body fat distribution and adipocyte function

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

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

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

Genetic effects on gene expression across human tissues

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

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

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

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

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

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

Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci

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

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

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

Overexpression of the Cytokine BAFF and Autoimmunity Risk

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

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

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

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

Performance of genomic medicine

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

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

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

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

Sex-biased genetic effects on gene regulation in humans

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

Systematic functional regulatory assessment of disease-associated variants.

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The impact of rare variation on gene expression across tissues

The impact of sex on gene expression across human tissues

The impact of structural variation on human gene expression

The landscape of genomic imprinting across diverse adult human tissues

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

Transcriptome and genome sequencing uncovers functional variation in humans

Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture

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

Transcriptomic signatures across human tissues identify functional rare genetic variation

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

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

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

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