How many rare diseases are there?

• Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)?

  2026 Clinical and Public Health Guidelines article Medicine Clinical practice guidelines implementation Open access

  0

  citations
• Knowledge Graphs and Explainable Artificial Intelligence (AI) for Drug Repurposing on Rare Diseases

  2026 Neurosymbolic Artificial Intelligence article Computer Science Computational Drug Discovery Methods Open access

  0

  citations
• RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets

  2025 npj Genomic Medicine article Health Professions Electronic Health Records Systems Open access

  4

  citations
• Non-oncologic orphan drug approvals across the world: Types of evidence required and time to approval

  2025 Drug Discovery Today article Economics, Econometrics and Finance Pharmaceutical Economics and Policy Open access

  0

  citations
• Assembly and reasoning over semantic mappings at scale for biomedical data integration

  2025 Bioinformatics article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

  1

  citations
• An Additional Criterion to Appraisal of Guidelines for Research and Evaluation II Might Increase the Efficiency in Guideline Development for Rare Diseases: Results of a National Delphi Study

  2025 Clinical and Public Health Guidelines article Medicine Clinical practice guidelines implementation Open access

  3

  citations
• Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability

  2025 medRxiv preprint Health Professions Electronic Health Records Systems Open access

  1

  citations
• Mental disorders in people with undiagnosed diseases presenting to German centres for rare diseases – prevalence, type and relevance

  2025 Psychiatry Research article Medicine Psychosomatic Disorders and Their Treatments Open access

  1

  citations
• Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

  2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  27

  citations
• The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap

  2024 Nature Reviews Drug Discovery review Medicine Biomedical Ethics and Regulation

  41

  citations
• Knowledge Graphs and Explainable AI for Drug Repurposing on Rare Diseases

  2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Computer Science Computational Drug Discovery Methods Open access

  7

  citations
• Standardizing variant naming in literature with VariantValidator to increase diagnostic rates

  2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  19

  citations
• Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

  2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  5

  citations
• Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments

  2024 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  8

  citations
• The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

  2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access

  14

  citations
• The case for open science: rare diseases

  2020 JAMIA Open article Computer Science Research Data Management Practices Open access

  63

  citations

16 results