ReviewIranian journal of child neurology2018
Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.
Review in Iranian journal of child neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed.
- Understanding the genetics and neurology: an overview of adult neurogenetics.Asian biomedicine : research, reviews and news · 2025Review
- Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies.Molecular syndromology · 2024Article
- Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.International journal of molecular sciences · 2024Article
- Article
- Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation.BMC medical genomics · 2022Article
- Article
- Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.Genes · 2021Article
- Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.Orphanet journal of rare diseases · 2020Article
- Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome.Frontiers in genetics · 2020Article
- Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.Ontario health technology assessment series · 2020Article
- A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND).Frontiers in neurology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveInborn errors of metabolism are complex disorders with huge variability in clinical manifestations. Decreasing cost of whole exome sequencing (WES) in recent years, made it affordable. Therefore, we witnessed an increase in using WES in diagnosis of genetic diseases, including inherited metabolic disorders.
methodsA systematic search was done in well-known databases including Medline, Google, Cochrane, and PubMed until 1 Oct 2017. We reviewed the articles addressing the use of WES in diagnosis of metabolic and neurogenetic diseases to evaluate its impact in diagnosis of these conditions.
resultsWES is an effective technology with remarkable impact in diagnosis of metabolic and neurologic diseases, especially in complex cases. Diagnostic yield of WES for these conditions has large variety, ranging from 16% to 68% with an increase during recent years. WES can provide fresh valuable information about new disease, new variants and phenotypes. Careful analysis and interpretation of data obtained by WES and precise evaluation of correlation between clinical manifestation and WES findings are necessary to achieve a correct diagnosis.
conclusionWES is effective and useful technology for diagnosis of metabolic and neurogenetic diseases, especially in complex or unsolved cases.
Indexed as
Identifiers
29379558PMC5760669What 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.