February 14, 2026 preprint Open access Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium medRxiv DOI: 10.64898/2026.02.10.26345954 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 0 References 4 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access European Reference Networks: challenges and opportunities 2021 Journal of Community Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 80 citations HGVS Nomenclature 2024: improvements to community engagement, usability, and computability 2024 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 65 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 30 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 7 citations 4 results