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

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

14 Mar 2024

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically heterogeneous inherited neurological diseases, with more than 130 disease-causing genes. Whole genome sequencing (WGS) has improved diagnosis across genetic diseases, but the diagnostic impact in CMT is yet to be fully reported. We present the diagnostic results from a single specialist inherited neuropathy centre, including the impact of...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Hereditary Neurological Disorders
Share to Peripheral Neuropathies and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38481354
DOI: 10.1093/brain/awae064

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth diseasePMID 38481354Read ↗

Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single-site study.Semantic proximity Read ↗

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.Semantic proximity Read ↗

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

The genetics of Charcot&ndash;Marie&ndash;Tooth disease: current trends and future implications for diagnosis and managementSemantic proximity Read ↗

Charcot–Marie–Tooth disease and related disorders: an evolving landscapeSemantic proximity Read ↗

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.Semantic proximity Read ↗

Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.Semantic proximity Read ↗

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.Semantic proximity Read ↗

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.Semantic proximity Read ↗

Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.Semantic proximity Read ↗

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.Semantic proximity Read ↗

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