Tandem repeats mediating genetic plasticity in health and disease

RNA phase transitions in repeat expansion disorders

(2017) Ankur Jain et al.   NATURE

Genome-wide profiling of heritable and de novo STR variations

(2017) Thomas Willems et al.   NATURE METHODS

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

(2017) Tao Zu et al.   NEURON

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

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

Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression

(2017) S L Gardiner et al.   Translational Psychiatry

Huntingtin gene repeat size variations affect risk of lifetime depression

(2017) Sarah L. Gardiner et al.   Translational Psychiatry

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

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

Genotypic Context and Epistasis in Individuals and Populations

(2016) Timothy B. Sackton et al.   CELL

Disease-associated repeat instability and mismatch repair

(2016) Monika H.M. Schmidt et al.   DNA REPAIR

Sex-specific effects of the Huntington gene on normal neurodevelopment

(2016) Jessica K. Lee et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Selection pressure on human STR loci and its relevance in repeat expansion disease

(2016) Makoto K. Shimada et al.   MOLECULAR GENETICS AND GENOMICS

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

(2016) Swapan Mallick et al.   NATURE

Classification and characterization of microsatellite instability across 18 cancer types

(2016) Ronald J Hause et al.   NATURE MEDICINE

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

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

Evolutionary Footprints of Short Tandem Repeats in Avian Promoters

(2016) Hideaki Abe et al.   Scientific Reports

Single Amino Acid Repeats in the Proteome World: Structural, Functional, and Evolutionary Insights

(2016) Amitha Sampath Kumar et al.   PLoS One

Exploring possible DNA structures in real-time polymerase kinetics using Pacific Biosciences sequencer data

(2015) Sterling Sawaya et al.   BMC BIOINFORMATICS

Characterization and distribution of repetitive elements in association with genes in the human genome

(2015) Kai-Chiang Liang et al.   COMPUTATIONAL BIOLOGY AND CHEMISTRY

Accurate typing of short tandem repeats from genome-wide sequencing data and its applications

(2015) Arkarachai Fungtammasan et al.   GENOME RESEARCH

MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals

(2015) Keisha D. Carlson et al.   GENOME RESEARCH

Tandem repeat variation in human and great ape populations and its impact on gene expression divergence

(2015) Tugce Bilgin Sonay et al.   GENOME RESEARCH

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

(2015) Melissa Gymrek et al.   NATURE GENETICS

R loops: new modulators of genome dynamics and function

(2015) José M. Santos-Pereira et al.   NATURE REVIEWS GENETICS

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

(2015) Saskia Polling et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Environmental factors as modulators of neurodegeneration: Insights from gene–environment interactions in Huntington's disease

(2015) Christina Mo et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

(2015) Saskia Polling et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Huntington disease

(2015) Gillian P. Bates et al.   Nature Reviews Disease Primers

L1 Retrotransposons and Somatic Mosaicism in the Brain

(2014) Sandra R. Richardson et al.   Annual Review of Genetics

Identifying novel interventional strategies for psychiatric disorders: integrating genomics, ‘enviromics’ and gene-environment interactions in valid preclinical models

(2014) Caitlin E McOmish et al.   BRITISH JOURNAL OF PHARMACOLOGY

The landscape of human STR variation

(2014) Thomas Willems et al.   GENOME RESEARCH

Research Review: Polygenic methods and their application to psychiatric traits

(2014) Naomi R. Wray et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

CGG allele size somatic mosaicism and methylation inFMR1premutation alleles

(2014) Dalyir I Pretto et al.   JOURNAL OF MEDICAL GENETICS

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

(2014) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

VNTRseek—a computational tool to detect tandem repeat variants in high-throughput sequencing data

(2014) Yevgeniy Gelfand et al.   NUCLEIC ACIDS RESEARCH

Large-scale analysis of tandem repeat variability in the human genome

(2014) Jorge Duitama et al.   NUCLEIC ACIDS RESEARCH

The Accuracy, Feasibility and Challenges of Sequencing Short Tandem Repeats Using Next-Generation Sequencing Platforms

(2014) Monika Zavodna et al.   PLoS One

Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome

(2014) D. Colak et al.   SCIENCE

The overdue promise of short tandem repeat variation for heritability

(2014) Maximilian O. Press et al.   TRENDS IN GENETICS

Microsatellite Interruptions Stabilize Primate Genomes and Exist as Population-Specific Single Nucleotide Polymorphisms within Individual Human Genomes

(2014) Guruprasad Ananda et al.   PLoS Genetics

Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing

(2013) Audrey Guilmatre et al.   HUMAN MUTATION

Inferring short tandem repeat variation from paired-end short reads

(2013) Minh Duc Cao et al.   NUCLEIC ACIDS RESEARCH

Microsatellite Tandem Repeats Are Abundant in Human Promoters and Are Associated with Regulatory Elements

(2013) Sterling Sawaya et al.   PLoS One

DAT1 Polymorphism Determines L-DOPA Effects on Learning about Others’ Prosociality

(2013) Christoph Eisenegger et al.   PLoS One

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

(2013) Udo Rüb et al.   PROGRESS IN NEUROBIOLOGY

Epigenetic modifications in trinucleotide repeat diseases

(2013) Marguerite V. Evans-Galea et al.   TRENDS IN MOLECULAR MEDICINE

A Tale of Two Maladies? Pathogenesis of Depression with and without the Huntington’s Disease Gene Mutation

(2013) Xin Du et al.   Frontiers in Neurology

Polyglutamine neurodegeneration: expanded glutamines enhance native functions

(2012) Harry T Orr   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genetic polymorphisms of 5-HTT and DAT but not COMT differentially affect verbal and visuospatial working memory functioning

(2012) David Zilles et al.   EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE

Population-scale analysis of human microsatellites reveals novel sources of exonic variation

(2012) L.J. McIver et al.   GENE

lobSTR: A short tandem repeat profiler for personal genomes

(2012) Melissa Gymrek et al.   GENOME RESEARCH

Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

(2012) Rachel Adihe Lokanga et al.   HUMAN MUTATION

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

Stress-Induced Modulators of Repeat Instability and Genome Evolution

(2012) Natalie C. Fonville et al.   JOURNAL OF MOLECULAR MICROBIOLOGY AND BIOTECHNOLOGY

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

(2012) Lei Sun et al.   NATURE GENETICS

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles

(2012) Gareth Highnam et al.   NUCLEIC ACIDS RESEARCH

Evolution and function of CAG/polyglutamine repeats in protein–protein interaction networks

(2012) Martin H. Schaefer et al.   NUCLEIC ACIDS RESEARCH

Analysis of Microsatellite Variation in Drosophila melanogaster with Population-Scale Genome Sequencing

(2012) John W. Fondon et al.   PLoS One

Variation within the Huntington's Disease Gene Influences Normal Brain Structure

(2012) Mark Mühlau et al.   PLoS One

Repeat variation in the human PER2 gene as a new genetic marker associated with cocaine addiction and brain dopamine D2 receptor availability

(2012) E Shumay et al.   Translational Psychiatry

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

FXN methylation predicts expression and clinical outcome in Friedreich ataxia

(2011) Marguerite V. Evans-Galea et al.   ANNALS OF NEUROLOGY

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

(2011) Hussein Daoud et al.   ARCHIVES OF NEUROLOGY

Correlation of CAG repeat length between the maternal and paternal allele of the Huntingtin gene: evidence for assortative mating

(2011) Peg Nopoulos et al.   Behavioral and Brain Functions

A Functional Variant of the Serotonin Transporter Gene (SLC6A4) Moderates Impulsive Choice in Attention-Deficit/Hyperactivity Disorder Boys and Siblings

(2011) Edmund J.S. Sonuga-Barke et al.   BIOLOGICAL PSYCHIATRY

A CAG repeat polymorphism ofKCNN3predicts SK3 channel function and cognitive performance in schizophrenia

(2011) Sabrina Grube et al.   EMBO Molecular Medicine

Evaluation of microsatellite variation in the 1000 Genomes Project pilot studies is indicative of the quality and utility of the raw data and alignments

(2011) L.J. McIver et al.   GENOMICS

Variation in CAG repeat length of the androgen receptor gene predicts variables associated with intrasexual competitiveness in human males

(2011) Zachary L. Simmons et al.   HORMONES AND BEHAVIOR

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

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

Comparative toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease

(2011) Clare L. van Eyk et al.   HUMAN MOLECULAR GENETICS

Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG33 repeat length in the Huntington's disease gene

(2011) Ferdinando Squitieri et al.   MOVEMENT DISORDERS

NOS1 ex1f-VNTR polymorphism influences prefrontal brain oxygenation during a working memory task

(2011) Juliane Kopf et al.   NEUROIMAGE

An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

(2011) Brian Wilburn et al.   NEURON

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver

(2011) Jong-Min Lee et al.   PLoS One

MAO A VNTR polymorphism and amygdala volume in healthy subjects

(2011) Antonio Cerasa et al.   PSYCHIATRY RESEARCH-NEUROIMAGING

Human cognitive flexibility depends on dopamine D2 receptor signaling

(2011) Mieke van Holstein et al.   PSYCHOPHARMACOLOGY

Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!

(2011) Christopher E. Pearson   PLoS Genetics

Prevalence of Incompletely Penetrant Huntington's Disease Alleles Among Individuals With Major Depressive Disorder

(2010) Roy H. Perlis et al.   AMERICAN JOURNAL OF PSYCHIATRY

Partners in crime: bidirectional transcription in unstable microsatellite disease

(2010) R. Batra et al.   HUMAN MOLECULAR GENETICS

A Genomic Portrait of Human Microsatellite Variation

(2010) B. A. Payseur et al.   MOLECULAR BIOLOGY AND EVOLUTION

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Mechanisms of trinucleotide repeat instability during human development

(2010) Cynthia T. McMurray   NATURE REVIEWS GENETICS

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletion of the Huntingtin Polyglutamine Stretch Enhances Neuronal Autophagy and Longevity in Mice

(2010) Shuqiu Zheng et al.   PLoS Genetics

Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for ‘missing heritability’

(2009) Anthony J. Hannan   TRENDS IN GENETICS

Marked variation in predicted and observed variability of tandem repeat loci across the human genome

(2008) Colm T O'Dushlaine et al.   BMC GENOMICS

Flexible Structures and Ligand Interactions of Tandem Repeats Consisting of Proline, Glycine, Asparagine, Serine, and/or Threonine Rich Oligopeptides in Proteins

(2008) Norio Matsushima et al.   CURRENT PROTEIN & PEPTIDE SCIENCE

Mutagenic roles of DNA “repair” proteins in antibody diversity and disease-associated trinucleotide repeat instability

(2008) Meghan M. Slean et al.   DNA REPAIR

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline

(2008) Vincent Dion et al.   HUMAN MOLECULAR GENETICS

Friedreich's Ataxia GAA·TTC Duplex and GAA·GAA·TTC Triplex Structures Exclude Nucleosome Assembly

(2008) Haihe Ruan et al.   JOURNAL OF MOLECULAR BIOLOGY

DNA instability in postmitotic neurons

(2008) R. Gonitel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Simple sequence repeats: genetic modulators of brain function and behavior

(2008) John W. Fondon et al.   TRENDS IN NEUROSCIENCES

CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination

(2008) Randell T. Libby et al.   PLoS Genetics