ReviewJMA journal2021
Initiative on Rare and Undiagnosed Disease in Japan.
Review in JMA journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 33 citations in OpenAlex.
- Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.Human genome variation · 2026Article
- Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.Human genome variation · 2026Article
- ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype.Human genome variation · 2026Article
- Reinterpreting National Whole-genome Sequencing Data: Lessons from the First Korean Pilot Study.Annals of laboratory medicine · 2026Article
- Assessing rare disease understanding: a novel disease readiness level framework.Orphanet journal of rare diseases · 2025Article
- Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant.Human genome variation · 2025Article
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- Japanese Public Health Insurance System's new genomic strategic action to shorten the "diagnostic odyssey" for patients with rare and intractable diseases.Journal of human genetics · 2024Article
- A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.medRxiv : the preprint server for health sciences · 2024Article
- Fostering the international interoperability of clinical research networks to tackle undiagnosed and under-researched rare diseases.Frontiers in medicine · 2024Article
- A novel functionalFrontiers in immunology · 2024Article
- Functional analysis ofFrontiers in genetics · 2024Article
- Article
- Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.Genome medicine · 2023Article
- Heterozygous c.175C>T variant inClinical case reports · 2023Article
- Beyond the exome: What's next in diagnostic testing for Mendelian conditions.American journal of human genetics · 2023Review
- X-linked intellectual disability related to a novel variant of KLHL15.Human genome variation · 2023Article
- Article
- Evaluation of Clinical Practice Guidelines for Rare Diseases in Japan.JMA journal · 2022Article
- The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.Orphanet journal of rare diseases · 2022Article
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Initiative on Rare and Undiagnosed Diseases (IRUD) has established a unified all-Japan diagnostic and research scheme for rare and undiagnosed diseases covering the entire geographic areas and specialty/subspecialty fields. The fundamental IRUD scheme consists of six components: coordinating center (IRUD-CC), clinical center (IRUD-CL), clinical specialty subgroup (IRUD-CSS), analysis center (IRUD-AC), data center (IRUD-DC), and resource center (IRUD-RC). IRUD has registered many pedigrees with undiagnosed diseases, established their diagnoses with high diagnostic rate, identified novel causative genes and new disease entities, and promoted extensive data sharing and international collaboration. IRUD plays an important role in the national medical support network for rare and intractable diseases together with academic societies and national centers. Promotion of IRUD would be essential in elucidating causes and ultimately providing cures for rare and undiagnosed diseases.
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.