ArticleEuropean journal of human genetics : EJHG2018
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
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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
49 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Building a National Interoperable Rare Eye Disease Data Warehouse: Methodological Framework and Implementation Report From the French Rare Eye Disease Database (FREDD) Initiative.JMIR medical informatics · 2026Article
- Patients' and Providers' Attitudes Toward Artificial Intelligence and Electronic Health Record Use in Deep Phenotyping and Rare-Disease Screening: An Empty Systematic Review.Healthcare (Basel, Switzerland) · 2026Review
- Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.Brain : a journal of neurology · 2026Article
- From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases.Human mutation · 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
- MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis.European journal of human genetics : EJHG · 2025Article
- Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.Orphanet journal of rare diseases · 2025Review
- A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research.Journal of neuromuscular diseases · 2025Review
- Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.European journal of human genetics : EJHG · 2025Article
- Cytochrome P450 3A gene family and medication in childhood nephrotic syndrome: An update.Global medical genetics · 2025Review
- Enabling data linkages for rare diseases in a resilient environment with the SERDIF framework.NPJ digital medicine · 2024Article
- Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.medRxiv : the preprint server for health sciences · 2024Article
- Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.Nature communications · 2024Article
- Beyond the exome: What's next in diagnostic testing for Mendelian conditions.American journal of human genetics · 2023Review
- Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.Genes · 2023Article
- The Expanding Phenotypical Spectrum ofGenes · 2023Review
- TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.Nature communications · 2023Article
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
Although individually uncommon, rare diseases (RDs) collectively affect 6-8% of the population. The unmet need of the rare disease community was recognized by the European Commission which in 2012 funded three flagship projects, RD-Connect, NeurOmics, and EURenOmics, to help move the field forward with the ambition of advancing -omics research and data sharing at their core in line with the goals of IRDiRC (International Rare Disease Research Consortium). NeurOmics and EURenOmics generate -omics data and improve diagnosis and therapy in rare renal and neurological diseases, with RD-Connect developing an infrastructure to facilitate the sharing, systematic integration and analysis of these data. Here, we summarize the achievements of these three projects, their impact on the RD community and their vision for the future. We also report from the Joint Outreach Day organized by the three projects on the 3rd of May 2017 in Berlin. The workshop stimulated an open, multi-stakeholder discussion on the challenges of the rare diseases, and highlighted the cross-project cooperation and the common goal: the use of innovative genomic technologies in rare disease research.
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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.