ReviewCurrent opinion in pediatrics2014
The National Institutes of Health undiagnosed diseases program.
Review in Current opinion in pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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
28 citing papers in PubMed, 59 citations in OpenAlex.
- Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.Genetics in medicine open · 2026Article
- Development of self-phenotyping tools to empower patients and improve diagnostics.EBioMedicine · 2025Article
- One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.Human mutation · 2025Article
- Identifying and Extracting Rare Diseases and Their Phenotypes with Large Language Models.Journal of healthcare informatics research · 2024Article
- ADAR Family Proteins: A Structural Review.Current issues in molecular biology · 2024Review
- Accelerating rare disease detection: an experience of multidisciplinary team model in undiagnosed diseases program in a children's hospital.Frontiers in public health · 2024Article
- Continuing a search for a diagnosis: the impact of adolescence and family dynamics.Orphanet journal of rare diseases · 2023Article
- Diagnostic reasoning in neurogenetics: a general approach.Arquivos de neuro-psiquiatria · 2022Review
- Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.Journal of inherited metabolic disease · 2022Review
- The diagnostic odyssey: insights from parents of children living with an undiagnosed condition.Orphanet journal of rare diseases · 2022Article
- What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?Annual review of medicine · 2022Review
- Rare and undiagnosed liver diseases: challenges and opportunities.Translational gastroenterology and hepatology · 2021Article
- DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier.PLoS computational biology · 2020Article
- Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.Italian journal of pediatrics · 2020Article
- Awareness of rare and genetic neurological diseases among italian neurologist. A national survey.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- A scoping review and proposed workflow for multi-omic rare disease research.Orphanet journal of rare diseases · 2020Article
- Genomic medicine for undiagnosed diseases.Lancet (London, England) · 2019Review
- Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning.JMIR medical informatics · 2019Article
- The Korean undiagnosed diseases program: lessons from a one-year pilot project.Orphanet journal of rare diseases · 2019Review
- Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.International journal of environmental research and public health · 2018Review
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 at 2 institutions in 1 country.
Funding
Abstract
purpose of reviewTo review the approach to undiagnosed patients and results of the National Institutes of Health (NIH) undiagnosed diseases program (UDP), and discuss its benefits to patients, academic medical centers, and the greater scientific community. RECENT
findingsThe NIH UDP provides comprehensive and collaborative evaluations for patients with objective findings of disease whose diagnoses have long eluded the medical community. Intensive review of patient records, careful phenotyping, and new genomic technologies have resulted in the diagnosis of new and extremely rare conditions, expanded the phenotypes of rare disorders, and determined that symptoms are caused by more than one disorder in a family. SUMMARY: Many children and adults with complex phenotypes remain undiagnosed despite years of searching. The most common undiagnosed disorders involve a neurologic phenotype. Comprehensive phenotyping and genomic analysis utilizing nuclear families can provide a diagnosis in some cases and provide good 'lead' candidate genes for others. A UDP can be important for patients, academic medical centers, the scientific community, and society.
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.