ArticleEuropean journal of human genetics : EJHG2017
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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.
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Who cites it
22 citing papers in PubMed.
- The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.JMIR medical informatics · 2026Article
- Translating multi-omics into healthcare: requisites for scalable and equitable implementation.Human genomics · 2026Review
- E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021: Remote Monitoring: New Solutions for New Avenues in Neuromuscular Disorders.Journal of neuromuscular diseases · 2026Article
- Rare Disease Drug Repurposing.JAMA network open · 2025Article
- Artificial intelligence empowering rare diseases: a bibliometric perspective over the last two decades.Orphanet journal of rare diseases · 2024Article
- Practice Patterns in Fournier's Gangrene in Europe and Implications for a Prospective Registry Study.Antibiotics (Basel, Switzerland) · 2023Article
- The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.Human mutation · 2022Article
- Research on rare diseases: ten years of progress and challenges at IRDiRC.Nature reviews. Drug discovery · 2022Article
- [Contemporary practice patterns in the treatment of Fournier's gangrene in German academic medicine and their implications for planning a registry study].Der Urologe. Ausg. A · 2021Article
- Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders.Orphanet journal of rare diseases · 2021Article
- Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning.JMIR medical informatics · 2019Article
- International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases.EMBO molecular medicine · 2019Article
- An ontological foundation for ocular phenotypes and rare eye diseases.Orphanet journal of rare diseases · 2019Article
- The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage.Orphanet journal of rare diseases · 2018Article
- RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.European journal of human genetics : EJHG · 2018Article
- Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.Clinical and translational science · 2018Review
- Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients.Journal of neuromuscular diseases · 2018Article
- The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.European journal of human genetics : EJHG · 2017Article
- "Matching" consent to purpose: The example of the Matchmaker Exchange.Human mutation · 2017Article
- Building dialogues between clinical and biomedical research through cross-species collaborations.Seminars in cell & developmental biology · 2017Review
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The International Rare Diseases Research Consortium (IRDiRC) has created a quality label, 'IRDiRC Recognized Resources', formerly known as 'IRDiRC Recommended'. It is a peer-reviewed quality indicator process established based on the IRDiRC Policies and Guidelines to designate resources (ie, standards, guidelines, tools, and platforms) designed to accelerate the pace of discoveries and translation into clinical applications for the rare disease (RD) research community. In its first year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the field of RD research more broadly. These included data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. 'IRDiRC Recognized Resources' is a mechanism aimed to provide community-approved contributions to RD research higher visibility, and encourage researchers to adopt recognised standards, guidelines, tools, and platforms that facilitate research advances guided by the principles of interoperability and sharing.
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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.