ArticleNature reviews. Genetics2018
Paediatric genomics: diagnosing rare disease in children.
Article in Nature reviews. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 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
45 citing papers in PubMed.
- Beyond the linear genome: how reference bias threatens preventive medicine and geroscience.GeroScience · 2026Article
- Article
- Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.Clinical genetics · 2026Observational
- Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES.Global medical genetics · 2025Article
- 2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.Neurobiology of disease · 2025Review
- Advancing neonatal health: the promise and challenges of universal genome sequencing in newborn screening.Pediatric research · 2025Article
- Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.Journal of the Endocrine Society · 2025Review
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- The Applied Genomics Development Strategy by the Croatian Academy of Sciences and Arts paves the way for the future development of applied genomics in Croatia.Croatian medical journal · 2024Article
- Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance.Journal of medical ethics · 2024Article
- Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.Heliyon · 2024Article
- Rare neurodevelopmental conditions and parents' mental health - how and when does genetic diagnosis matter?Orphanet journal of rare diseases · 2024Article
- Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.Frontiers in genetics · 2024Article
- Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery.Neural development · 2023Article
- Machine learning in rare disease.Nature methods · 2023Review
- The implementation and utility of clinical exome sequencing in a South African infant cohort.Frontiers in genetics · 2023Article
- Unraveling haplotype errors in the DFNA33 locus.Frontiers in genetics · 2023Article
- Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.Endocrine connections · 2022Review
- Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.International journal of molecular sciences · 2022Article
- Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.Brain : a journal of neurology · 2022Article
Corrections and comments
- Erratum for
Authors and funding
3 authors.
Funding
Abstract
This corrects the article DOI: 10.1038/nrg.2017.116.
Identifiers
29456250What 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.