ArticleNeurology. Genetics2026
Utility of Targeted RNA Analysis in Neurogenetic Disorders.
Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Augmenting Diagnostic Yield From Genomic Sequencing.Neurology. Genetics · 2026Article
- Novel compound heterozygousFrontiers in endocrinology · 2026Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Clinical genetic testing is a powerful diagnostic tool for neurologic disorders. However, its clinical utility is diminished by the large number of variants of unknown significance (VUS) detected in patients. While Methods: Thirty-eight potentially spliceogenic variants based on location and/or Results: RNA analysis led to reclassification of 79% (30/38) of the variants. Eighteen variants became diagnostic ( Discussion: RNA studies provided molecular evidence enabling reclassification for the majority of variants. While diagnostic reclassifications provided a genetic answer for patients, downgrades also had an important impact by resolving VUS. Our data indicate that targeted RNA analysis using whole blood clarify the pathogenicity of potentially spliceogenic variants identified in clinical genetic testing and improve the accuracy of genetic diagnoses in neurologic disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.