30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

(2020) Andrea Cortese et al.   BRAIN

CRISPR/Cas9‐mediated genome editing: From basic research to translational medicine

(2020) Filipe V. Jacinto et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo

(2020) Masayuki Nakamori et al.   NATURE GENETICS

Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias

(2020) Bin Jiao et al.   NEUROBIOLOGY OF AGING

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

(2020) Alessandra Ruggieri et al.   ACTA NEUROPATHOLOGICA

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

(2020) Francesca Mattioli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

(2020) Jianwen Deng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder

(2020) Hao Chen et al.   BRAIN

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

(2020) Isis B. T. Joosten et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

(2020) Mark F. Bennett et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy

(2020) Pu Fang et al.   Annals of Clinical and Translational Neurology

Evolution of a Human-Specific Tandem Repeat Associated with ALS

(2020) Meredith M. Course et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy

(2020) Wai Yan Yau et al.   ANNALS OF NEUROLOGY

Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort

(2020) Zhiyong Chen et al.   CLINICAL GENETICS

Therapeutic strategies for Huntington's disease

(2020) Carlos Estevez-Fraga et al.   CURRENT OPINION IN NEUROLOGY

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

(2020) Mai Tsuchiya et al.   JOURNAL OF HUMAN GENETICS

The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?

(2020) Roseanne Rosario et al.   MOLECULAR HUMAN REPRODUCTION

Genome-wide detection of tandem DNA repeats that are expanded in autism

(2020) Brett Trost et al.   NATURE

Telomere-to-telomere assembly of a complete human X chromosome

(2020) Karen H. Miga et al.   NATURE

Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy

(2020) Linlin Wan et al.   ANNALS OF NEUROLOGY

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

(2020) Ramita Dewan et al.   NEURON

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

(2019) Andrea Cortese et al.   NATURE GENETICS

Repeat-associated non-AUG (RAN) translation: insights from pathology

(2019) Monica Banez-Coronel et al.   LABORATORY INVESTIGATION

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

(2019) Sarah L. Nolin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

(2019) Ana Westenberger et al.   ANNALS OF NEUROLOGY

Genome-wide association study identifies 30 loci associated with bipolar disorder

(2019) Eli A. Stahl et al.   NATURE GENETICS

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

(2019) André B.P. van Kuilenburg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Long-Read Sequencing Emerging in Medical Genetics

(2019) Tuomo Mantere et al.   Frontiers in Genetics

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

(2019) Yun Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

(2019) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

(2019) Jun Sone et al.   NATURE GENETICS

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

(2019) Hiroyuki Ishiura et al.   NATURE GENETICS

Profiling the genome-wide landscape of tandem repeat expansions

(2019) Nima Mousavi et al.   NUCLEIC ACIDS RESEARCH

GGC repeat expansion of NOTCH2NLC in adult patients with leukoencephalopathy

(2019) Masaki Okubo et al.   ANNALS OF NEUROLOGY

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

(2019) Patra Yeetong et al.   BRAIN

Intronic (TTTGA) n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy

(2019) Zhidong Cen et al.   MOVEMENT DISORDERS

The impact of short tandem repeat variation on gene expression

(2019) Stephanie Feupe Fotsing et al.   NATURE GENETICS

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

(2019) Jinkuk Kim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human-specific tandem repeat expansion and differential gene expression during primate evolution

(2019) Arvis Sulovari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

(2019) Mark A. Corbett et al.   Nature Communications

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

(2019) Rahel T. Florian et al.   Nature Communications

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

(2019) Fulya Akçimen et al.   Frontiers in Genetics

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor

(2019) Qi-Ying Sun et al.   BRAIN

Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model

(2019) Lien Nguyen et al.   NEURON

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

(2018) Arne De Roeck et al.   ACTA NEUROPATHOLOGICA

Lethal form of spinocerebellar ataxia type 7 with early onset in childhood

(2018) G. Gousse et al.   ARCHIVES DE PEDIATRIE

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37

(2018) Marc Corral-Juan et al.   BRAIN

Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation

(2018) Ikuo K. Suzuki et al.   CELL

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

(2018) Ian T. Fiddes et al.   CELL

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

(2018) Sarah A. Cumming et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Tandem repeats mediating genetic plasticity in health and disease

(2018) Anthony J. Hannan   NATURE REVIEWS GENETICS

Repeat-Associated Non-ATG Translation in Neurological Diseases

(2018) Tao Zu et al.   Cold Spring Harbor Perspectives in Biology

Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome

(2018) Hagar Mor-Shaked et al.   Frontiers in Molecular Neuroscience

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

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

(2018) Rick M. Tankard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

(2018) Amy J. LaCroix et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution

(2018) Joana R. Loureiro et al.   HUMAN MUTATION

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

DNA repair in the trinucleotide repeat disorders

(2017) Lesley Jones et al.   LANCET NEUROLOGY

Therapies targeting DNA and RNA in Huntington's disease

(2017) Edward J Wild et al.   LANCET NEUROLOGY

Cross-disorder risk gene CACNA1C differentially modulates susceptibility to psychiatric disorders during development and adulthood

(2017) N Dedic et al.   MOLECULAR PSYCHIATRY

Interpreting short tandem repeat variations in humans using mutational constraint

(2017) Melissa Gymrek et al.   NATURE GENETICS

Genome-wide profiling of heritable and de novo STR variations

(2017) Thomas Willems et al.   NATURE METHODS

Unaffected mosaicC9orf72case

(2017) Philip McGoldrick et al.   NEUROLOGY

Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation

(2017) Giovana B. Bampi et al.   NEUROMOLECULAR MEDICINE

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

(2017) Tao Zu et al.   NEURON

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon inTAF1

(2017) D. Cristopher Bragg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA biology of disease-associated microsatellite repeat expansions

(2017) Kushal J. Rohilla et al.   Acta Neuropathologica Communications

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

(2016) Jun Sone et al.   BRAIN

ABCA7 rare variants and Alzheimer disease risk

(2016) Kilan Le Guennec et al.   NEUROLOGY

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

(2015) Zhengrui Xi et al.   ACTA NEUROPATHOLOGICA

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

(2015) R.A.M. Buijsen et al.   HUMAN REPRODUCTION

ATP-binding Cassette Transporter A7 (ABCA7) Loss of Function Alters Alzheimer Amyloid Processing

(2015) Kanayo Satoh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

RAN Translation in Huntington Disease

(2015) Monica Bañez-Coronel et al.   NEURON

Mechanisms of transcriptional dysregulation in repeat expansion disorders

(2014) Matthias Groh et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Personalized gene silencing therapeutics for Huntington disease

(2014) C. Kay et al.   CLINICAL GENETICS

The landscape of human STR variation

(2014) Thomas Willems et al.   GENOME RESEARCH

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

(2014) D. Colak et al.   SCIENCE

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

(2014) Matthias Groh et al.   PLoS Genetics

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

(2013) Koichiro Doi et al.   BIOINFORMATICS

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

lobSTR: A short tandem repeat profiler for personal genomes

(2012) Melissa Gymrek et al.   GENOME RESEARCH

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

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

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

(2010) Andrew C. Elden et al.   NATURE

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

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies

(2009) Peter O. Bauer et al.   JOURNAL OF NEUROCHEMISTRY

Molecular mechanisms underlying polyalanine diseases

(2009) C. Messaed et al.   NEUROBIOLOGY OF DISEASE