Deciphering Neurodegenerative Diseases Using Long-Read Sequencing

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

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

5′ UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy

(2020) Jianying Xi et al.   BRAIN

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

(2019) Nathaniel J. Hafford-Tear et al.   GENETICS IN MEDICINE

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

(2019) Yun Tian 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

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

(2019) Patra Yeetong et al.   BRAIN

Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families

(2019) Bernardo Machado Dias Domingues et al.   CEREBELLUM

Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease

(2019) Jianwen Deng et al.   JOURNAL OF MEDICAL GENETICS

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

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

(2018) Ida Höijer et al.   HUMAN MUTATION

Nanopore sequencing and assembly of a human genome with ultra-long reads

(2018) Miten Jain et al.   NATURE BIOTECHNOLOGY

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

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

(2018) Simon Ardui et al.   Frontiers in Genetics

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

(2018) Sheng Zeng et al.   JOURNAL OF MEDICAL GENETICS

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

(2018) Mark T. W. Ebbert et al.   Molecular Neurodegeneration

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases

(2018) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

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

(2017) Jason D Merker et al.   GENETICS IN MEDICINE

Amyotrophic lateral sclerosis

(2017) Brian Owens   NATURE

Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy

(2016) Zhidong Cen et al.   MOVEMENT DISORDERS

INC-Seq: accurate single molecule reads using nanopore sequencing

(2016) Chenhao Li et al.   GigaScience

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure

(2015) Karen N. McFarland et al.   PLoS One

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

(2014) Valérie Biancalana et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

(2013) Karen N McFarland et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

(2012) Patra Yeetong et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

(2012) Monique Losekoot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

(2012) Carolyn M. Yrigollen et al.   GENETICS IN MEDICINE

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene

(2012) E. W. Loomis et al.   GENOME RESEARCH

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington’s disease

(2012) Luciana de A Agostinho et al.   JOURNAL OF HUMAN GENETICS

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Repetitive DNA and next-generation sequencing: computational challenges and solutions

(2011) Todd J. Treangen et al.   NATURE REVIEWS GENETICS

Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease

(2011) J. Sone et al.   NEUROLOGY

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Direct detection of DNA methylation during single-molecule, real-time sequencing

(2010) Benjamin A Flusberg et al.   NATURE METHODS

Familial cortical myoclonic tremor with epilepsy: The third locus (FCMTE3) maps to 5p

(2010) C. Depienne et al.   NEUROLOGY

Continuous base identification for single-molecule nanopore DNA sequencing

(2009) James Clarke et al.   Nature Nanotechnology

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Real-Time DNA Sequencing from Single Polymerase Molecules

(2008) J. Eid et al.   SCIENCE