ArticlePloS one2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.Journal of inherited metabolic disease · 2018Pooled it
- Revolutionizing neonatal health: India's journey from assays to advanced genetics.Journal of applied genetics · 2026Review
- Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.Orphanet journal of rare diseases · 2025Review
- Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.Genes · 2023Article
- A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.International journal of neonatal screening · 2023Article
- Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.BMJ case reports · 2023Article
- Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.Human genetics · 2022Observational
- Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience.Biomolecules · 2022Article
- Molecular Modelling Hurdle in the Next-Generation Sequencing Era.International journal of molecular sciences · 2022Article
- Insights into National Laboratory Newborn Screening and Future Prospects.Medicina (Kaunas, Lithuania) · 2022Review
- Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.Frontiers in genetics · 2022Article
- Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.European journal of human genetics : EJHG · 2022Article
- Case report: 'AARS2 leukodystrophy'.Molecular genetics and metabolism reports · 2021Article
- Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.Genes · 2021Article
- Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.Genetics and molecular biology · 2021Article
- Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan.Orphanet journal of rare diseases · 2020Review
- Review
- Biallelic mutation ofNeurology. Genetics · 2020Article
- Infectious stress triggers a POLG-related mitochondrial disease.Neurogenetics · 2020Article
- Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.Scientific reports · 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
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNext-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for the diagnosis of a set of inborn errors of metabolism (IEM). The final aim of the study was to compare the findings for the diagnostic yield of NGS in patients who presented with consistent clinical and biochemical suspicion of IEM with those obtained for patients who did not have specific biomarkers.
methodsThe subjects studied (n = 146) were classified into two categories: Group 1 (n = 81), which consisted of patients with clinical and biochemical suspicion of IEM, and Group 2 (n = 65), which consisted of IEM cases with clinical suspicion and unspecific biomarkers. A total of 171 genes were analyzed using a custom targeted panel of genes followed by Sanger validation.
resultsGenetic diagnosis was achieved in 50% of patients (73/146). In addition, the diagnostic yield obtained for Group 1 was 78% (63/81), and this rate decreased to 15.4% (10/65) in Group 2 (X2 = 76.171; p < 0.0001).
conclusionsA rapid and effective genetic diagnosis was achieved in our cohort, particularly the group that had both clinical and biochemical indications for the diagnosis.
Indexed as
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.