ArticleThe New England journal of medicine2017
When One Diagnosis Is Not Enough.
Article in The New England journal of medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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
19 citing papers in PubMed.
- Article
- Three pediatric patients with dual rare genetic diagnoses: genetic and clinical findings.American journal of translational research · 2026Article
- The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome.Genes · 2024Article
- Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.Orphanet journal of rare diseases · 2024Article
- No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B.Clinical case reports · 2023Article
- Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.The Journal of clinical investigation · 2022Review
- The blended phenotype of a germlineCold Spring Harbor molecular case studies · 2021Article
- Far and wide: Exploring provider utilization of remote service provision for genome-wide sequencing in Canada.Molecular genetics & genomic medicine · 2021Article
- Disease trajectory browser for exploring temporal, population-wide disease progression patterns in 7.2 million Danish patients.Nature communications · 2020Article
- Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.Journal of bone and mineral metabolism · 2019Article
- Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.American journal of human genetics · 2019Article
- SLE: reconciling heterogeneity.Lupus science & medicine · 2019Article
- 22q and two: 22q11.2 deletion syndrome and coexisting conditions.American journal of medical genetics. Part A · 2018Article
- Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.Current genetic medicine reports · 2018Article
- Paediatric genomics: diagnosing rare disease in children.Nature reviews. Genetics · 2018Review
- Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.BMC medicine · 2017Article
- Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.American journal of medical genetics. Part A · 2017Article
- Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, andMolecular genetics & genomic medicine · 2017Article
- Lessons learned from additional research analyses of unsolved clinical exome cases.Genome medicine · 2017Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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Identifiers
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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.