ArticleJournal of clinical medicine2020
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 4 of them syntheses that pooled it.
What it found
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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.
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
40 citing papers in PubMed, 4 syntheses or guidelines pooled it, 78 citations in OpenAlex.
- Pooled it
- Benefits and barriers to broad implementation of genomic sequencing in the NICU.American journal of human genetics · 2025Pooled it
- Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.Archives of public health = Archives belges de sante publique · 2023Pooled it
- Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants: A Systematic Review.JAMA network open · 2022Pooled it
- Rapid whole-genome sequencing in the pediatric intensive care unit: from etiologic diagnosis to precision management-a narrative review.Translational pediatrics · 2026Review
- Role of next generation sequencing in neonatal diagnosis and screening.Journal of neuromuscular diseases · 2026Review
- Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing.Scientific reports · 2026Article
- Diagnostic yield and genetic landscape of rare pediatric diseases in Vietnam identified by exome sequencing.Scientific reports · 2026Article
- Rapid NGS Analysis on Google Cloud Platform: Performance Benchmark and User Tutorial.Clinical and translational science · 2025Article
- A genome-wide association study identifies novel genetic variants associated with neck or shoulder pain in the UK biobank (N = 430,193).Pain reports · 2025Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.American journal of human genetics · 2025Article
- Refractory Epilepsy in Adult Patient WithNeurology. Genetics · 2024Article
- Current situation and prospect for the diagnosis and treatment of pediatric critical rare diseases in China.Pediatric investigation · 2024Review
- Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.NPJ genomic medicine · 2024Review
- Further Delineation of Clinical Phenotype ofGenes · 2024Article
- Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.Frontiers in pediatrics · 2024Article
- Clinical heterogeneity of polish patients with KAT6B-related disorder.Molecular genetics & genomic medicine · 2023Article
- Double Heterozygous Pathogenic Variants in theGenes · 2023Article
- Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023).Children (Basel, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
23 authors at 3 institutions in 1 country.
Funding
Abstract
Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing (R-WES) can be successfully performed. R-WES (singletons) was performed in 18 unrelated infants with a severe and/or progressing disease with the suspicion of genetic origin hospitalized in an Intensive Care Unit (ICU). Blood samples were also collected from the parents. The results from the R-WES were available after 5-14 days. A conclusive genetic diagnosis was obtained in 13 children, corresponding to an overall diagnostic yield of 72.2%. For nine patients, R-WES was used as a first-tier test. Eight patients were diagnosed with inborn errors of metabolism, mainly mitochondrial diseases. In two patients, the disease was possibly caused by variants in genes which so far have not been associated with human disease (
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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.