The impact of short tandem repeat variation on gene expression

Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene

(2018) X. Shawn Liu et al.   CELL

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

(2018) Jeanne E. Savage et al.   NATURE GENETICS

Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia

(2018) Janet H.T. Song et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A One-Penny Imputed Genome from Next-Generation Reference Panels

(2018) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

(2018) Loic Yengo et al.   HUMAN MOLECULAR GENETICS

Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions

(2018) Sarah M. Urbut et al.   NATURE GENETICS

A reference haplotype panel for genome-wide imputation of short tandem repeats

(2018) Shubham Saini et al.   Nature Communications

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

The impact of structural variation on human gene expression

(2017) Colby Chiang et al.   NATURE GENETICS

Genome-wide profiling of heritable and de novo STR variations

(2017) Thomas Willems et al.   NATURE METHODS

Resistance to malaria through structural variation of red blood cell invasion receptors

(2017) Ellen M. Leffler et al.   SCIENCE

Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions

(2017) Adam Ciesiolka et al.   Frontiers in Cellular Neuroscience

Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs

(2017) Kosuke Matsuzono et al.   Molecular Therapy-Nucleic Acids

Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates

(2016) Thomas Willems et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Schizophrenia risk from complex variation of complement component 4

(2016) Aswin Sekar et al.   NATURE

Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels

(2016) Linda M Boettger et al.   NATURE GENETICS

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans

(2016) Javier Quilez et al.   NUCLEIC ACIDS RESEARCH

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

(2016) Erin G Conlon et al.   eLife

Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases

(2015) H. Guo et al.   HUMAN MOLECULAR GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

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

(2015) Thomas G P Grünewald et al.   NATURE GENETICS

Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C

(2015) Borbala Mifsud et al.   NATURE GENETICS

Abundant contribution of short tandem repeats to gene expression variation in humans

(2015) Melissa Gymrek et al.   NATURE GENETICS

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

Identifying Causal Variants at Loci with Multiple Signals of Association

(2014) F. Hormozdiari et al.   GENETICS

The landscape of human STR variation

(2014) Thomas Willems et al.   GENOME RESEARCH

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Protein−DNA binding in the absence of specific base-pair recognition

(2014) Ariel Afek et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

ALOX5Polymorphism associates with increased leukotriene production and reduced lung function and asthma control in children with poorly controlled asthma

(2012) E. Mougey et al.   CLINICAL AND EXPERIMENTAL ALLERGY

Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB

(2012) Christelle Borel et al.   HUMAN MUTATION

A direct characterization of human mutation based on microsatellites

(2012) James X Sun et al.   NATURE GENETICS

Manipulating nucleosome disfavoring sequences allows fine-tune regulation of gene expression in yeast

(2012) Tali Raveh-Sadka et al.   NATURE GENETICS

Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses

(2012) Oliver Stegle et al.   Nature Protocols

DNA secondary structures: stability and function of G-quadruplex structures

(2012) Matthew L. Bochman et al.   NATURE REVIEWS GENETICS

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression

(2011) M. P. Nasrallah et al.   HUMAN MOLECULAR GENETICS

ALOX5 gene variants affect eicosanoid production and response to fish oil supplementation

(2011) Charles B. Stephensen et al.   JOURNAL OF LIPID RESEARCH

The Use of Genome-Wide eQTL Associations in Lymphoblastoid Cell Lines to Identify Novel Genetic Pathways Involved in Complex Traits

(2011) Josine L. Min et al.   PLoS One

Variable Tandem Repeats Accelerate Evolution of Coding and Regulatory Sequences

(2010) Rita Gemayel et al.   Annual Review of Genetics

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities

(2010) Sven Heinz et al.   MOLECULAR CELL

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional analysis of 5-lipoxygenase promoter repeat variants

(2009) Susanna Vikman et al.   HUMAN MOLECULAR GENETICS

Genome-wide association meta-analysis for total serum bilirubin levels

(2009) A. D. Johnson et al.   HUMAN MOLECULAR GENETICS

Nucleosome positioning and gene regulation: advances through genomics

(2009) Cizhong Jiang et al.   NATURE REVIEWS GENETICS

R loops stimulate genetic instability of CTG{middle dot}CAG repeats

(2009) Y. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unstable Tandem Repeats in Promoters Confer Transcriptional Evolvability

(2009) M. D. Vinces et al.   SCIENCE

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation

(2008) Micha A. Haeuptle et al.   AMERICAN JOURNAL OF HUMAN GENETICS