Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome

(2021) Sefan Asamitsu et al.   Science Advances

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

(2021) Jiaxi Yu et al.   BRAIN

B2 SINE Copies Serve as a Transposable Boundary of DNA Methylation and Histone Modifications in the Mouse

(2021) Tomoko Ichiyanagi et al.   MOLECULAR BIOLOGY AND EVOLUTION

Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment

(2021) Takeshi Mizuguchi et al.   BRAIN

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases

(2021) Manon Boivin et al.   NEURON

Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration

(2021) Keqin Xu et al.   Frontiers in Cellular Neuroscience

NOTCH2NLC Intermediate‐Length Repeat Expansions Are Associated with Parkinson Disease

(2020) Chang‐he Shi et al.   ANNALS OF NEUROLOGY

Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis

(2020) Yanchun Yuan et al.   NEUROLOGY

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

(2020) Masashi Ogasawara et al.   Acta Neuropathologica Communications

Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy

(2020) Tasuku Ishihara et al.   Neurology-Genetics

Sequencing of human genomes with nanopore technology

(2019) Rory Bowden et al.   Nature Communications

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

GGC repeat expansion of NOTCH2NLC in adult patients with leukoencephalopathy

(2019) Masaki Okubo et al.   ANNALS OF NEUROLOGY

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

(2019) Aaron M. Wenger et al.   NATURE BIOTECHNOLOGY

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

(2019) Qi-Ying Sun et al.   BRAIN

Cis - and Trans -Modifiers of Repeat Expansions: Blending Model Systems with Human Genetics

(2018) Ryan J. McGinty et al.   TRENDS IN GENETICS

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

(2016) Jun Sone et al.   BRAIN

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers

(2014) Sarah L. Nolin et al.   GENETICS IN MEDICINE

methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles

(2012) Altuna Akalin et al.   GENOME BIOLOGY

A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 Promoter Binds Nuclear Proteins and Is Lost in Fragile X Syndrome

(2009) Anja Naumann et al.   AMERICAN JOURNAL OF HUMAN GENETICS