Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Authors
Keywords
-
Journal
Scientific Reports
Volume 11, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2021-01-28
DOI
10.1038/s41598-021-82050-5
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Genome-wide detection of tandem DNA repeats that are expanded in autism
- (2020) Brett Trost et al. NATURE
- A human-specific VNTR in the TRIB3 promoter causes gene expression variation between individuals
- (2020) Tiit Örd et al. PLoS Genetics
- Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
- (2019) Courtney E. French et al. INTENSIVE CARE MEDICINE
- Familial adult myoclonic epilepsy: A new expansion repeats disorder
- (2019) Ilaria Lagorio et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- 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
- Profiling the genome-wide landscape of tandem repeat expansions
- (2019) Nima Mousavi et al. NUCLEIC ACIDS RESEARCH
- 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
- The impact of short tandem repeat variation on gene expression
- (2019) Stephanie Feupe Fotsing et al. NATURE GENETICS
- Germline and somatic variant identification using BGISEQ-500 and HiSeq X Ten whole genome sequencing
- (2018) Ann-Marie Patch et al. PLoS One
- 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
- Detection of long repeat expansions from PCR-free whole-genome sequence data
- (2017) Egor Dolzhenko et al. GENOME RESEARCH
- Fragile X syndrome
- (2017) Randi J. Hagerman et al. Nature Reviews Disease Primers
- The ExAC browser: displaying reference data information from over 60 000 exomes
- (2016) Konrad J. Karczewski et al. NUCLEIC ACIDS RESEARCH
- A survey of tandem repeat instabilities and associated gene expression changes in 35 colorectal cancers
- (2015) Tugce Bilgin Sonay et al. BMC GENOMICS
- TheARID1Bphenotype: What we have learned so far
- (2014) Gijs W.E. Santen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3
- (2014) Sofie Metsu et al. PLoS Genetics
- The Unstable Repeats—Three Evolving Faces of Neurological Disease
- (2013) David L. Nelson et al. NEURON
- Microsatellite Tandem Repeats Are Abundant in Human Promoters and Are Associated with Regulatory Elements
- (2013) Sterling Sawaya et al. PLoS One
- Co-occurring diagnoses amongFMR1premutation allele carriers
- (2010) JE Hunter et al. CLINICAL GENETICS
- Trinucleotide repeats in human genome and exome
- (2010) Piotr Kozlowski et al. NUCLEIC ACIDS RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Human chromosome fragility
- (2007) T. Lukusa et al. Biochimica et Biophysica Acta-Gene Regulatory Mechanisms
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started