ReviewNeurology. Clinical practice2016
Clinical exome sequencing in neurologic disease.
Review in Neurology. Clinical practice, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 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
33 citing papers in PubMed, 76 citations in OpenAlex.
- Sarco/endoplasmatic reticulum calcium ATPase activity in healthy muscle and Brody disease.Biochemistry and biophysics reports · 2026Article
- Genetic insights: proband- only exome sequencing in pediatric neurological disorders.Journal of community genetics · 2026Article
- Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.Annals of neurology · 2025Review
- Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.PloS one · 2025Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment.Scientific reports · 2024Article
- Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.Neurology. Genetics · 2024Article
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- Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.Cerebellum (London, England) · 2022Article
- TRPC3 Channel Activity and Viability of Purkinje Neurons can be Regulated by a Local Signalosome.Frontiers in molecular biosciences · 2022Article
- Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.International journal of molecular sciences · 2021Article
- Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.Cerebellum (London, England) · 2021Observational
- The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.Iranian journal of child neurology · 2021Article
- The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.Balkan journal of medical genetics : BJMG · 2020Article
- Genetic testing utilization for patients with neurologic disease and the limitations of claims data.Neurology. Genetics · 2020Article
- A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.Human mutation · 2020Article
- Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.Journal of medical case reports · 2019Article
- A comparative study of patients' perceptions of genetic and genomic medicine services in California and Malaysia.Journal of community genetics · 2019Article
- Clinical application of next-generation sequencing to the practice of neurology.The Lancet. Neurology · 2019Review
Corrections and comments
- Erratum issued
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
purpose of reviewThe landscape of genetic diagnostic testing has changed dramatically with the introduction of next-generation clinical exome sequencing (CES), which provides an unbiased analysis of all protein-coding sequences in the roughly 21,000 genes in the human genome. Use of this testing, however, is currently limited in clinical neurologic practice by the lack of a framework for appropriate use and payer coverage. RECENT
findingsCES can be cost-effective due to its high diagnostic yield in comparison to other genetic tests in current use and should be utilized as a routine diagnostic test in patients with heterogeneous neurologic phenotypes facing a broad genetic differential diagnosis. CES can eliminate the need for escalating sequences of conventional neurodiagnostic tests. SUMMARY: This review discusses the role of clinical exome sequencing in neurologic disease, including its benefits to patients, limitations, appropriate use, and billing. We also provide a reference template policy for payer use when considering testing requests.
Identifiers
What OpenQuestion 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 OpenQuestion graph.