ReviewGenomics & informatics2024
Molecular diagnostic approach to rare neurological diseases from a clinician viewpoint.
Review in Genomics & informatics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.Journal of neuromuscular diseases · 2026Review
- Editorial for the special collection: frontiers in rare disease genetics.Genomics & informatics · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Advancements in sequencing technology have significantly enhanced diagnostic capabilities for rare neurological diseases. This progress in molecular diagnostics can greatly impact clinical management and facilitate the development of personalized treatments for patients with rare neurological diseases. Neurologists with expertise should raise clinical awareness, as phenotyping remains crucial for making a clinical diagnosis, even in the genomics era. They should prioritize different types of genomic tests, considering both the benefits and the limitations inherent to each test. Notably, long-read sequencing is being utilized in cases suspected to involve repeat expansion disorders or complex structural variants. Repeat expansion disorders are highly prevalent in neurological diseases, particularly within the ataxia group. Significant efforts, including periodic reanalysis, data sharing, or integration of genomics with multi-omics studies, should be directed toward cases that remain undiagnosed after standard next-generation sequencing.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.