Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions.

The Journal of molecular diagnostics : JMD - 1 Nov 2018

Suh EunRan, Grando Kaitlyn, Van Deerlin Vivianna M

Abstract excerpt

A hexanucleotide GGGGCC repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal degeneration. Accurate determination and quantitation of the repeat length is critical in both clinical and research settings. However, because of the complexity of the C9orf72 expansion with high GC content, large size of repeats, and high rate of insertions/deletions (indels)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to C9orf72 Protein
Share to DNA
Share to DNA Repeat Expansion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to INDEL Mutation

Share to Limit of Detection

Share to Mosaicism

Share to Polymerase Chain Reaction

Share to Reproducibility of Results

Source

Open in PubMed Open full text

Identifiers

PMID: 30138726
DOI: 10.1016/j.jmoldx.2018.07.001
PMCID: PMC6222278

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions.PMID 30138726Read ↗

Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansionSemantic proximity Read ↗

Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.Semantic proximity Read ↗

Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions.Semantic proximity Read ↗

A PCR-based protocol to accurately size C9orf72 intermediate-length alleles.Semantic proximity Read ↗

Long-read sequencing across the <i>C9orf72</i> ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseSemantic proximity Read ↗

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

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.Semantic proximity Read ↗

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisationSemantic proximity Read ↗

Detection of long repeat expansions from PCR-free whole-genome sequence dataSemantic proximity Read ↗

Long-read targeted sequencing uncovers clinicopathological associations forC9orf72-linked diseasesSemantic proximity Read ↗

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategiesSemantic proximity Read ↗

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.