How many rare diseases are there?

Unexplored therapeutic opportunities in the human genome

Oprea, T. I., Bologa, C. G., Brunak, S., Campbell, A., Gan, G. N., Gaulton, A., Gomez, S. M., Guha, R., Hersey, A., Holmes, J., et al. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2018.14 · Cited by 378 · see citing works

Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., Valentine, J., Davies, K., Groft, S. C., Preti, R., et al. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0049-9 · Cited by 357 · see citing works

Classification, Ontology, and Precision Medicine

Haendel, M. A., Chute, C. G., & Robinson, P. N. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1615014 · Cited by 317 · see citing works

Erratum: Unexplored therapeutic opportunities in the human genome

Oprea, T. I., Bologa, C., Brunak, S., Campbell, A., Gan, G. N., Gaulton, A., Gomez, S. M., Guha, R., Hersey, A., Holmes, J., et al. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2018.52 · Cited by 304 · see citing works

A Census of Disease Ontologies

Haendel, M. A., McMurry, J. A., Relevo, R., Mungall, C. J., Robinson, P. N., & Chute, C. G. (2018) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-080917-013459 · Cited by 49 · see citing works

k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology constructionPreprint

Mungall, C., Koehler, S., Robinson, P. N., Holmes, I. H., & Haendel, M. A. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/048843 · Cited by 20 · see citing works

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

Marwaha, S., Knowles, J. W., & Ashley, E. A. (2022) · Genome Medicine · doi:10.1186/s13073-022-01026-w · Cited by 365 · see citing works

Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., Valentine, J., Davies, K., Groft, S. C., Preti, R., et al. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0049-9 · Cited by 357 · see citing works

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Rehm, H. L., Page, A. J. H., Smith, L., Adams, J. B., Alterovitz, G., Babb, L. J., Barkley, M. P., Baudis, M., Beauvais, M. J. S., Beck, T., et al. (2021) · Cell Genomics · doi:10.1016/j.xgen.2021.100029 · Cited by 324 · see citing works

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

Kingdom, R., & Wright, C. F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.920390 · Cited by 294 · see citing works

Artificial Intelligence for Drug Discovery: Are We There Yet?

Hasselgren, C., & Oprea, T. I. (2024) · Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-040323-040828 · Cited by 236 · see citing works

Genomic newborn screening for rare diseases

Stark, Z., & Scott, R. H. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00621-w · Cited by 231 · see citing works

A roadmap for the Human Developmental Cell Atlas

Haniffa, M. A., Taylor, D. M., Linnarsson, S., Aronow, B. J., Bader, G. D., Barker, R. A., Cámara, P. G., Camp, J. G., Chédotal, A., Copp, A. J., et al. (2021) · Nature · doi:10.1038/s41586-021-03620-1 · Cited by 184 · see citing works

Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

Adachi, T., El-Hattab, A. W., Jain, R., Nogales Crespo, K. A., Quirland Lazo, C. I., Scarpa, M., Summar, M., & Wattanasirichaigoon, D. (2023) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph20064732 · Cited by 168 · see citing works

The national economic burden of rare disease in the United States in 2019

Yang, G., Cintina, I., Pariser, A., Oehrlein, E. M., Sullivan, J. B., & Kennedy, A. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02299-5 · Cited by 165 · see citing works

A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act

Fermaglich, L. J., & Miller, K. L. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02790-7 · Cited by 134 · see citing works

Foundation Model for Advancing Healthcare: Challenges, Opportunities and Future Directions

He, Y., Huang, F., Jiang, X., Nie, Y., Wang, M., Wang, J., & Chen, H. (2024) · IEEE Reviews in Biomedical Engineering · doi:10.1109/rbme.2024.3496744 · Cited by 130 · see citing works

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

Tisdale, A., Cutillo, C. M., Nathan, R., Russo, P. A., Laraway, B. J., Haendel, M. A., Nowak, D., Hasche, C., Chan, C., Griese, E. R., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02061-3 · Cited by 106 · see citing works

Access and Unmet Needs of Orphan Drugs in 194 Countries and 6 Areas: A Global Policy Review With Content Analysis

Chan, A. Y. L., Chan, V. K. Y., Olsson, S., Fan, M., Jit, M., Gong, M., Zhang, S., Ge, M., Pathadka, S., Chung, C. C. Y., et al. (2020) · Value in Health · doi:10.1016/j.jval.2020.06.020 · Cited by 104 · see citing works

Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare

Smith, C. I. E., Bergman, P., & Hagey, D. W. (2022) · iScience · doi:10.1016/j.isci.2022.104698 · Cited by 107 · see citing works

Can you hear us now? The impact of health-care utilization by rare disease patients in the United States

Navarrete-Opazo, A. A., Singh, M., Tisdale, A., Cutillo, C. M., & Garrison, S. R. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01241-7 · Cited by 102 · see citing works

Mondo: Unifying diseases for the world, by the world

Vasilevsky, N. A., Matentzoglu, N. A., Toro, S., Flack, J. E., Hegde, H., Unni, D. R., Alyea, G. F., Amberger, J. S., Babb, L., Balhoff, J. P., et al. (2022) · doi:10.1101/2022.04.13.22273750 · Cited by 107 · see citing works

Rare Genetic Diseases: Nature's Experiments on Human Development

Lee, C. E., Singleton, K. S., Wallin, M., & Faúndez, V. (2020) · iScience · doi:10.1016/j.isci.2020.101123 · Cited by 104 · see citing works

Complex genomic rearrangements: an underestimated cause of rare diseases

Schuy, J., Grochowski, C. M., Carvalho, C. M. B., & Lindstrand, A. (2022) · Trends in Genetics · doi:10.1016/j.tig.2022.06.003 · Cited by 75 · see citing works

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

Jacobsen, J. O. B., Kelly, C., Cipriani, V., Mungall, C., Reese, J., Daniš, D., Robinson, P. N., & Smedley, D. P. (2022) · Human Mutation · doi:10.1002/humu.24380 · Cited by 71 · see citing works

Long-read RNA sequencing: A transformative technology for exploring transcriptome complexity in human diseases

Ament, I. H., DeBruyne, N., Wang, F., & Lin, L. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.11.025 · Cited by 71 · see citing works

ChatGPT as a medical doctor? A diagnostic accuracy study on common and rare diseases

Mehnen, L., Gruarin, S., Vasileva, M., & Knapp, B. (2023) · doi:10.1101/2023.04.20.23288859 · Cited by 60 · see citing works

Clinical applications of gene therapy for rare diseases: A review

Papaioannou, I., Owen, J. S., & Yáñez‐Muñoz, R. J. (2023) · International Journal of Experimental Pathology · doi:10.1111/iep.12478 · Cited by 65 · see citing works

Global health for rare diseases through primary care

Baynam, G. S., Hartman, A. L., Letinturier, M. C. V., Bolz-Johnson, M., Carrion, P. B., Grady, A. C., Dong, X., Dooms, M. M., Dreyer, L., Graeßner, H., et al. (2024) · The Lancet Global Health · doi:10.1016/s2214-109x(24)00134-7 · Cited by 63 · see citing works

Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria

Cohen, A. M., Chamberlin, S. R., DeLoughery, T. G., Nguyen, M., Bedrick, S. D., Meninger, S. L., Ko, J. J., Amin, J., Wei, A., & Hersh, W. (2020) · PLoS ONE · doi:10.1371/journal.pone.0235574 · Cited by 61 · see citing works

The case for open science: rare diseases

Rubinstein, Y., Robinson, P. N., Gahl, W. A., Avillach, P., Baynam, G. S., Cederroth, H., Goodwin, R. M., Groft, S. C., HANSSON, M. G., Harris, N. L., et al. (2020) · JAMIA Open · doi:10.1093/jamiaopen/ooaa030 · Cited by 58 · see citing works

Drug repurposing for rare: progress and opportunities for the rare disease community

Jonker, A. H., O’Connor, D. J., Cavaller-Bellaubi, M., Fetro, C., Γώγου, Μ., Hoen, P. A. C. ’., de Kort, M., Stone, H. A., Valentine, N., & Pasmooij, A. M. G. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1352803 · Cited by 53 · see citing works

Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study

Phillips, C. B., Parkinson, A., Namsrai, T., Chalmers, A., Dews, C., Gregory, D., Kelly, E., Lowe, C., & Desborough, J. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03319-2 · Cited by 54 · see citing works

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

Thaxton, C., Goldstein, J., DiStefano, M. T., Wallace, K. E., Witmer, P. D., Haendel, M. A., Hamosh, A., Rehm, H. L., & Berg, J. S. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100131 · Cited by 52 · see citing works

Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes

Wojcik, M. H., Bresnahan, M., del Rosario, M. C., Ojeda, M. M., Kritzer, A., & Fraiman, Y. S. (2022) · Pediatric Research · doi:10.1038/s41390-022-02240-3 · Cited by 52 · see citing works

What can GPT-4 do for Diagnosing Rare Eye Diseases? A Pilot Study

Hu, X., Ran, A. R., Nguyen, T. X., Szeto, S., Yam, J. C. S., Chan, C. K. M., & Cheung, C. Y.-L. (2023) · Ophthalmology and Therapy · doi:10.1007/s40123-023-00789-8 · Cited by 52 · see citing works

Cucurbitacin B-induced G2/M cell cycle arrest of conjunctival melanoma cells mediated by GRP78–FOXM1–KIF20A pathway

Wei, J., Chen, X., Li, Y., Li, R., Bao, K., Liao, L., Xie, Y., Yang, T., Zhu, J., Mao, F., et al. (2022) · Acta Pharmaceutica Sinica B · doi:10.1016/j.apsb.2022.05.021 · Cited by 51 · see citing works

A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases

Pandey, R., Brennan, N. F., Trachana, K., Katsandres, S. C., Bodamer, O. A., Belmont, J. W., Veenstra, D. L., & Peng, S. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101398 · Cited by 52 · see citing works

Application of Bayesian methods to accelerate rare disease drug development: scopes and hurdles

Kidwell, K., Roychoudhury, S., Wendelberger, B. A., Scott, J., Moroz, T., Yin, S., Majumder, M., Zhong, J., Huml, R. A., & Miller, V. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02342-5 · Cited by 48 · see citing works

National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses

Guo, J., Liu, P., Chen, L., Lv, H., Li, J., Yu, W., Xu, K., Zhu, Y., Wu, Z., Tian, Z., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02130-7 · Cited by 47 · see citing works

Artificial intelligence in drug repurposing for rare diseases: a mini-review

Cortial, L., Montero, V., Tourlet, S., del Bano, J., & Blin, O. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1404338 · Cited by 52 · see citing works

Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT

Zelin, C., Chung, W. K., Jeanne, M., Zhang, G., & Weng, C. (2024) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2024.104702 · Cited by 47 · see citing works

Aryl Hydrocarbon Receptor Mechanisms Affecting Chronic Kidney Disease

Curran, C. S., & Kopp, J. B. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.782199 · Cited by 46 · see citing works

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

Wang, R., Helbig, I., Edmondson, A. C., Lin, L., & Xing, Y. (2023) · Briefings in Bioinformatics · doi:10.1093/bib/bbad284 · Cited by 40 · see citing works

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

Wang, C. M., Heagle, A. B., Rath, A., Anido, R., Ardigò, D., Baynam, G. S., Dawkins, H. J. S., Hamosh, A., Cam, Y. L., Malherbe, H. L., et al. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03322-7 · Cited by 41 · see citing works

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

Jonker, A. H., Tãtaru, E.-A., Graeßner, H., Dimmock, D., Jaffé, A., Baynam, G. S., Davies, J. O. J., Mitkus, S., Iliach, O., Horgan, R., et al. (2024) · Nature Reviews Drug Discovery · doi:10.1038/s41573-024-01059-3 · Cited by 41 · see citing works

Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care

Halley, M. C., Halverson, C. M. E., Tabor, H. K., & Goldenberg, A. J. (2023) · The American Journal of Bioethics · doi:10.1080/15265161.2023.2207500 · Cited by 41 · see citing works

A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia

Fields, T., Patterson, M. C., Brémovà-Ertl, T., Belcher, G., Billington, I., Churchill, G. C., Davis, W., Evans, W. R. H., Flint, S., Galione, A., et al. (2021) · Trials · doi:10.1186/s13063-020-05009-3 · Cited by 40 · see citing works

Carer reported experiences: Supporting someone with a rare disease

McMullan, J., Crowe, A. L., Downes, K., McAneney, H., & McKnight, A. J. (2021) · Health & Social Care in the Community · doi:10.1111/hsc.13336 · Cited by 39 · see citing works

Barriers and facilitators to the implementation of guidelines in rare diseases: a systematic review

Gittus, M., Chong, J., Sutton, A., Ong, A. C. M., & Fotheringham, J. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02667-9 · Cited by 40 · see citing works

Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups

Rintell, D. J., Heath, D., Menendez, F. B., Cross, E., Cross, T., Knobel, V., Gagnon, B., Turtle, C. J., Cohen, A., Kalmykov, E. A., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01706-7 · Cited by 38 · see citing works

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Easteal, S., Arkell, R. M., Balboa, R. F., Bellingham, S. A., Brown, A. D. H., Calma, T., Cook, M., Davis, M., Dawkins, H. J. S., Dinger, M. E., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.005 · Cited by 39 · see citing works

Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs

Baylot, V., Le, T. K., Taïeb, D., Rocchi, P., & Colleaux, L. (2024) · Communications Biology · doi:10.1038/s42003-024-06121-9 · Cited by 41 · see citing works

RareBench: Can LLMs Serve as Rare Diseases Specialists?

Chen, X., Mao, X., Guo, Q., Wang, L., Zhang, S., & Chen, T. (2024) · Proceedings of the 30th ACM SIGKDD Conference on Knowledge Discovery and Data Mining · doi:10.1145/3637528.3671576 · Cited by 41 · see citing works

The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup

Brooks, P., Ottinger, E., Portero, D., Lomash, R. M., Alimardanov, A., Terse, P., Xu, X., Chandler, R., Hauserman, J., Esposito, E., et al. (2020) · Human Gene Therapy · doi:10.1089/hum.2020.259 · Cited by 33 · see citing works

Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

Alsentzer, E., Li, M. M., Kobren, S. N., Noori, A., Undiagnosed Diseases Network, Kohane, I. S., & Zitnik, M. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-01749-1 · Cited by 54 · see citing works

Knockout mouse models as a resource for the study of rare diseases

da Silva‐Buttkus, P., Spielmann, N., Klein‐Rodewald, T., Schütt, C., Aguilar‐Pimentel, J. A., Amarie, O. V., Becker, L., Calzada‐Wack, J., Garrett, L., Gerlini, R., et al. (2023) · Mammalian Genome · doi:10.1007/s00335-023-09986-z · Cited by 35 · see citing works

Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease

Germain, D. P., Gruson, D., Malcles, M., & Garcelon, N. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03655-x · Cited by 38 · see citing works

Survival of patients with rare diseases: a population-based study in Tuscany (Italy)

Gorini, F., Coi, A., Mezzasalma, L., Baldacci, S., Pierini, A., & Santoro, M. C. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01907-0 · Cited by 34 · see citing works

Artificial Intelligence-Driven Facial Image Analysis for the Early Detection of Rare Diseases: Legal, Ethical, Forensic, and Cybersecurity Considerations

Kováč, P., Jackuliak, P., Bražinová, A., Varga, I., Aláč, M., Smatana, M., Lovich, D., & Thurzo, A. (2024) · AI · doi:10.3390/ai5030049 · Cited by 33 · see citing works

Why rare disease needs precision medicine—and precision medicine needs rare disease

Might, M., & Crouse, A. B. (2022) · Cell Reports Medicine · doi:10.1016/j.xcrm.2022.100530 · Cited by 33 · see citing works

Rapid genome sequencing for pediatrics

Jezkova, J., Shaw, S., Taverner, N. V., & Williams, H. J. (2022) · Human Mutation · doi:10.1002/humu.24466 · Cited by 32 · see citing works

Rare disease care in Europe – Gaping unmet needs

Pakter, P. (2024) · Rare · doi:10.1016/j.rare.2024.100018 · Cited by 32 · see citing works

A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs

Mao, X., Huang, Y., Jin, Y., Wang, L., Chen, X., Liu, H., Yang, X., Xu, H., Luan, X., Xiao, Y., et al. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-01452-1 · Cited by 33 · see citing works

Nonhuman primate genetic models for the study of rare diseases

Vallender, E. J., Hotchkiss, C. E., Lewis, A. D., Rogers, J., Stern, J. A., Peterson, S. M., Ferguson, B. M., & Sayers, K. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02619-3 · Cited by 36 · see citing works

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

Cheerie, D., Meserve, M. M., Beijer, D., Kaiwar, C., Newton, L., Tavares, A. L. T., Soucy, A., Sherrill, E., Leonard, S., Sanders, S., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.02.017 · Cited by 32 · see citing works

An update on China's national policies regarding rare diseases

Ying, Z., Gong, L., & Li, C. (2021) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2021.01027 · Cited by 31 · see citing works

The Quest for Secondary Pharmaceuticals: Drug Repurposing/Chiral-Switches Combination Strategy

D’Acquarica, I., & Agranat, I. (2023) · ACS Pharmacology & Translational Science · doi:10.1021/acsptsci.2c00151 · Cited by 33 · see citing works

Requirements analysis for an AI-based clinical decision support system for general practitioners: a user-centered design process

Schütze, D., Holtz, S., Neff, M. C., Köhler, S. M., Schaaf, J., Frischen, L. S., Sedlmayr, B., & Müller, B. S. (2023) · BMC Medical Informatics and Decision Making · doi:10.1186/s12911-023-02245-w · Cited by 29 · see citing works

Invisible patients in rare diseases: parental experiences with the healthcare and social services for children with rare diseases. A mixed method study

Domaradzki, J., & Walkowiak, D. (2024) · Scientific Reports · doi:10.1038/s41598-024-63962-4 · Cited by 31 · see citing works

Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases

Epps, C., Bax, R., Croker, A. K., Green, D. J., Gropman, A. L., Klein, Á., Landry, H., Pariser, A., Rosenman, M. B., Sakiyama, M., et al. (2022) · Therapeutic Innovation & Regulatory Science · doi:10.1007/s43441-022-00409-w · Cited by 30 · see citing works

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

Hiatt, L., Weisburd, B., Dolzhenko, E., Rubinetti, V., Avvaru, A. K., VanNoy, G. E., Kurtas, N. E., Rehm, H. L., Quinlan, A. R., & Dashnow, H. (2025) · Genome Medicine · doi:10.1186/s13073-025-01454-4 · Cited by 29 · see citing works

Considerations for mRNA Product Development, Regulation and Deployment Across the Lifecycle

Skerritt, J. H. (2025) · Vaccines · doi:10.3390/vaccines13050473 · Cited by 30 · see citing works

Research advances in treatment methods and drug development for rare diseases

Han, Q., Fu, H., Chu, X., Wen, R., Zhang, M., You, T., Fu, P., Qin, J. G., & Cui, T. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.971541 · Cited by 28 · see citing works

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

Piedade, A., Francisco, R., Jaeken, J., Sarkhail, P., Brasil, S., Ferreira, C. R., Rijoff, T., Pascoal, C., Gil, A., Lourenço, A. B., et al. (2022) · Journal of Rare Diseases · doi:10.1007/s44162-022-00003-6 · Cited by 28 · see citing works

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Adang, L. A., Sevagamoorthy, A., Sherbini, O., Fraser, J. L., Bonkowsky, J. L., Gavazzi, F., D'Aiello, R., Modesti, N. B., Yu, E. J., Mutua, S., et al. (2024) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2024.108453 · Cited by 28 · see citing works

Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: a scoping review

Ng, Q. X., Ong, C., Chan, K. E., Ong, T. S. K., Lim, I. J. X., Tang, A. S. P., Chan, H. W., & Koh, G. C. (2024) · Health Economics Review · doi:10.1186/s13561-024-00519-1 · Cited by 27 · see citing works

Machine Learning-Friendly Biomedical Datasets for Equivalence and Subsumption Ontology Matching

He, Y., Chen, J., Dong, H., Jiménez-Ruiz, E., Hadian, A., & Horrocks, I. R. (2022) · Lecture notes in computer science · doi:10.1007/978-3-031-19433-7_33 · Cited by 27 · see citing works

Clustering rare diseases within an ontology-enriched knowledge graph

Sanjak, J. S., Binder, J., Yadaw, A. S., Zhu, Q., & Mathé, E. A. (2023) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocad186 · Cited by 27 · see citing works

A sensitive and reproducible cell-based assay via secNanoLuc to detect neutralizing antibody against adeno-associated virus vector capsid

Baatartsogt, N., Kashiwakura, Y., Hayakawa, M., Kamoshita, N., Hiramoto, T., Mizukami, H., & Ohmori, T. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.06.004 · Cited by 24 · see citing works

The economics of moonshots: Value in rare disease drug development

Yates, N. A., & Hinkel, J. M. (2022) · Clinical and Translational Science · doi:10.1111/cts.13270 · Cited by 25 · see citing works

Analysis of Incentive Policies and Initiatives on Orphan Drug Development in China: Challenges, Reforms and Implications

Zhao, Z., Pei, Z., Hu, A., Zhang, Y., & Chen, J. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02684-8 · Cited by 24 · see citing works

Exploring deep learning methods for recognizing rare diseases and their clinical manifestations from texts

Segura-Bédmar, I., Camino-Perdones, D., & Guerrero‐Aspizua, S. (2022) · BMC Bioinformatics · doi:10.1186/s12859-022-04810-y · Cited by 26 · see citing works

A review of key terminology and definitions used for birth defects globally

Malherbe, H. L., Modell, B., Blencowe, H. K., Strong, K., & Aldous, C. R. (2023) · Journal of Community Genetics · doi:10.1007/s12687-023-00642-2 · Cited by 24 · see citing works

Survival prediction landscape: an in-depth systematic literature review on activities, methods, tools, diseases, and databases

Abbasi, A. F., Asim, M. N., Ahmed, S., Vollmer, S. J., & Dengel, A. (2024) · Frontiers in Artificial Intelligence · doi:10.3389/frai.2024.1428501 · Cited by 23 · see citing works

Experiences of quality of life and access to health services among rare disease caregivers: a scoping review

Černe, T., Kragelj, L. Z., Turk, E., & Pavlič, D. R. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03327-2 · Cited by 22 · see citing works

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions

Gunes, D., Karaca, M., Durmuş, A., Ak, B., Ayaz, N. A., Altınel, Z. U., Aslanger, A. D., Atalar, F., Balci, M. C., Bilgin, L., et al. (2025) · European Journal of Pediatrics · doi:10.1007/s00431-025-06101-z · Cited by 23 · see citing works

Stop Codon Context-Specific Induction of Translational Readthrough

Schilff, M., Sargsyan, Y., Hofhuis, J., & Thoms, S. (2021) · Biomolecules · doi:10.3390/biom11071006 · Cited by 23 · see citing works

Allostery and Missense Mutations as Intermittently Linked Promising Aspects of Modern Computational Drug Discovery

Bishop, Ö. T., Musyoka, T. M., & Barozi, V. (2022) · Journal of Molecular Biology · doi:10.1016/j.jmb.2022.167610 · Cited by 23 · see citing works

From precision interventions to precision health

Schork, N. J., & Goetz, L. H. (2025) · Nature Communications · doi:10.1038/s41467-025-60395-z · Cited by 24 · see citing works

Routine omics collection is a golden opportunity for European human research in space and analog environments

Cope, H., Willis, C. R. G., MacKay, M. J., Rutter, L. A., Toh, L. S., Williams, P. M., Herranz, R., Borg, J., Bezdan, D., Giacomello, S., et al. (2022) · Patterns · doi:10.1016/j.patter.2022.100550 · Cited by 21 · see citing works

Chronological Analysis of First-in-Class Drugs Approved from 2011 to 2022: Their Technological Trend and Origin

Okuyama, R. (2023) · Pharmaceutics · doi:10.3390/pharmaceutics15071794 · Cited by 21 · see citing works

The Role of Propranolol as a Repurposed Drug in Rare Vascular Diseases

Cuesta, Á. M., Gallardo‐Vara, E., Casado‐Vela, J., Recio-Poveda, L., Botella, L. M., & Albiñana, V. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23084217 · Cited by 20 · see citing works

Epigenomic Approaches for the Diagnosis of Rare Diseases

Martínez–Delgado, B., & Barrero, M. J. (2022) · Epigenomes · doi:10.3390/epigenomes6030021 · Cited by 20 · see citing works

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

Daniš, D., Bamshad, M. J., Bridges, Y., Caballero-Oteyza, A., Cacheiro, P., Carmody, L., Chimirri, L., Chong, J. X., Coleman, B. D., Dalgleish, R. W. M., et al. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100371 · Cited by 20 · see citing works

Standardizing variant naming in literature with VariantValidator to increase diagnostic rates

Freeman, P., Wagstaff, J. F., Fokkema, I. F. A. C., Cutting, G. R., Rehm, H. L., Davies, A. C., den Dunnen, J. T., Gretton, L. J., & Dalgleish, R. W. M. (2024) · Nature Genetics · doi:10.1038/s41588-024-01938-w · Cited by 19 · see citing works

Global insight into rare disease and orphan drug definitions: a systematic literature review

Abo-Zaid, G., Kerr, K., Alomary, H., Al‐Omar, H. A., & McKnight, A. J. (2025) · BMJ Open · doi:10.1136/bmjopen-2024-086527 · Cited by 19 · see citing works

Poor education and urgent information need for emergency physicians about rare diseases in China

Zhou, L., Xu, J., & Yang, J. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02354-1 · Cited by 19 · see citing works

Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank

Patrick, M., Bardhi, R., Zhou, W., Elder, J. T., Gudjonsson, J., & Tsoi, L. (2022) · Genome Medicine · doi:10.1186/s13073-022-01094-y · Cited by 16 · see citing works

A review of economic issues for gene‐targeted therapies: Value, affordability, and access

Garrison, L. P., Lo, A. W., Finkel, R. S., & Deverka, P. A. (2023) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32037 · Cited by 19 · see citing works

Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey

Rohani-Montez, S. C., Bomberger, J., Zhang, C., Cohen, J., McKay, L., & Evans, W. R. H. (2023) · Genetics in Medicine Open · doi:10.1016/j.gimo.2023.100808 · Cited by 19 · see citing works

Resources and tools for rare disease variant interpretation

Licata, L., Via, A., Turina, P., Babbi, G., Benevenuta, S., Carta, C., Casadio, R., Cicconardi, A., Facchiano, A. M., Fariselli, P., et al. (2023) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2023.1169109 · Cited by 21 · see citing works

The Rare Diseases Clinical Research Network: a model for clinical trial readiness

Lumsden, J. M., & Urv, T. K. (2023) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040231219272 · Cited by 21 · see citing works

Implementation of multi-omics in diagnosis of pediatric rare diseases

Ali, S., Li, Q., & Agrawal, P. B. (2024) · Pediatric Research · doi:10.1038/s41390-024-03728-w · Cited by 18 · see citing works

Evaluation of rare diseases policy performance of oecd countries using mcdm methods

İnce, Ö., & Güre, M. D. P. (2021) · Health Policy and Technology · doi:10.1016/j.hlpt.2021.100537 · Cited by 18 · see citing works

The use of pharmacological chaperones in rare diseases caused by reduced protein stability

Gil‐Martínez, J., Bernardo‐Seisdedos, G., Mato, J. M., & Millet, Ó. (2022) · PROTEOMICS · doi:10.1002/pmic.202200222 · Cited by 18 · see citing works

Turning the Unknown into Known: Data Mining Is Increasingly Used to Prospect for Rare-Disease Biology and Treatments

Mertz, L. (2017) · IEEE Pulse · doi:10.1109/mpul.2016.2627459 · Cited by 4 · see citing works

The burden of rare diseases

Ferreira, C. R. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61124 · Cited by 508 · see citing works

Rare and unknown diseases are a modern trend in medicine

Vasichkina, E. S., & Kostareva, A. A. (2022) · Russian Journal for Personalized Medicine · doi:10.18705/2782-3806-2022-2-2-72-83 · Cited by 4 · see citing works

Rare Diseases and Educational Tools for Advanced Practitioners

Faiman, B. M. (2025) · Journal of the Advanced Practitioner in Oncology · doi:10.6004/jadpro.2025.16.3.1

Problems of finding rare diseases in the documentation of German hospitals

Martin, T., Tahar, K., Lehne, M., Hebestreit, H., Schepers, J., Krefting, D., & Graeßner, H. (2021) · German Medical Science (German Research Foundation) · doi:10.3205/21gmds117 · Cited by 4 · see citing works