Cited by 574Genomics and Rare DiseasesGenetic Associations and EpidemiologyChronic Disease Management Strategies

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Haendel, Melissa, Vasilevsky, Nicole, Unni, Deepak, Bologa, Cristian, Harris, Nomi, Rehm, Heidi, Hamosh, Ada, Baynam, Gareth, Groza, Tudor, McMurry, Julie, Dawkins, Hugh, Rath, Ana, Thaxton, Courtney, Bocci, Giovanni, Joachimiak, Marcin P., Köhler, Sebastian, Robinson, Peter N., Mungall, Chris, Oprea, Tudor I.·2020·Nature Reviews Drug Discovery

DOI 10.1038/d41573-019-00180-yPMC PMC7771654

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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
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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
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Haendel, M. A., Chute, C. G., & Robinson, P. N. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1615014 · Cited by 324
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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 303
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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
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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
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“Among >7000 known rare diseases, Cystic Fibrosis (CF) is one of the most common [3,4].”
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Hoyt, C., Karis, K., & Gyori, B. (2025) · bioRxiv · doi:10.1093/bioinformatics/btaf542 · Cited by 4
“In Section 3.3, we apply SeMRA to integrating resources that catalog human diseases to expand on the analysis in Haendel et al. (2020).”
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“The World Health Organization estimates that over 6,000 rare diseases affect 1 in 2,000 individuals, particularly in pediatric conditions, (6,7,8) accounting for 3.5% to 5.9% of the global population, with some diseases being rare within specific demographic groups (9,10).”
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Gouda, P., Cohen, L. W., Berelowitz, K., Bollinger, J. M., Bruno, J., Cehelsky, J. E., Charo, R. A., Harrop, J., Kahn, J., McGuire, A., et al. (2026) · Human Gene Therapy · doi:10.1177/10430342261430765 · Cited by 2
Machine learning approaches to identify rare fungal and tuberculous infections in hospitalized patients
Joghataee, M., Tekin, A., Gupta, A., Herasevich, V., Gajic, O., & Qin, X. (2026) · International Journal of Medical Informatics · doi:10.1016/j.ijmedinf.2026.106688 · Cited by 3
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Rubio, C. (2020) · Future Rare Diseases · doi:10.2217/frd-2020-0001 · Cited by 2
Discovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling
López-Sánchez, M., Loucera, C., Peña-Chilet, M., & Dopazo, J. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac007 · Cited by 2
“Beyond these examples that illustrate confirmed interactions already reported between rare diseases and COVID-19 infection hallmarks, the approach presented here has detected potential interactions in ∼10% of the 7000 of the rare diseases described (2) to date (see Supplementary Material, Tables S1 and S2).”
Perception of Social and Educational Quality of Life of Minors Diagnosed with Rare Diseases: A Systematic Review and Meta-Analysis
Coca, J. R., Gómez-Redondo, S., Soto-Sánchez, A., Lozano-Blasco, R., & Romero-Gonzalez, B. (2023) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph20020933 · Cited by 2
“In fact, in the year 2000, the European Union considered that a condition could be classified as rare when it presents a prevalence rate of 1 out of 2000 people [1].”
Background
A model for crowdsourcing high-impact research questions for Castleman disease and other rare diseases
Korsunska, A., Repasky, M., Zuccato, M., & Fajgenbaum, D. C. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02678-6 · Cited by 2
DDX3X Syndrome Behavioral Manifestations with Particular Emphasis on Psycho-Pathological Symptoms—A Review
Stefaniak, U., Malak, R. E., Kaczmarek, A., Samborski, W., & Mojs, E. H. (2023) · Biomedicines · doi:10.3390/biomedicines11113046 · Cited by 2
“And that number is rising [1].”
Genomics in Rare Diseases: An Overview for the Patient, Family and Non-Specialist Healthcare Professional
Kent, A., Parker, A. P. J., Patel, A., Wynn, S. L., & Steward, C. A. (2023) · Future Rare Diseases · doi:10.2217/frd-2023-0019 · Cited by 2
Automatically pre-screening patients for the rare disease aromatic l -amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population
Cohen, A. M., Kaner, J., Miller, R., Kopesky, J. W., & Hersh, W. (2023) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocad244 · Cited by 2
Drug repurposing for rare diseases
Israr, J., Alam, S., & Kumar, A. (2024) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2024.03.034 · Cited by 2
Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol
Stratton, C., Taylor, A., Konstantinidis, M., McNiven, V., Kannus, P., Gill, P., Stedman, I., Veroniki, A. A., Offringa, M., Potter, B. K., et al. (2024) · JBI Evidence Synthesis · doi:10.11124/jbies-24-00091 · Cited by 2
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““ Rare ” has several de ﬁ nitions globally and is de ﬁ ned in the United States as fewer than 200,000 individuals and in Europe as fewer than 1 in 2000 individuals (Haendel et al ., 2020).”
Local Style Transfer via Latent Space Manipulation for Cross-Disease Lesion Segmentation
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“There exists more than 7,000 rare diseases, and rare diseases as a whole affect more than 350 million people worldwide [9], [10].”
Background
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Mueller, K., Shine, M. G., Lee, J. W., Lee, S., & Malone, K. E. (2024) · Research Square · doi:10.21203/rs.3.rs-4949811/v1 · Cited by 2
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“Even with this stringent criterion, there are more than 10,000 rare diseases documented, and it is estimated that one in 10 people within the United States is affected by a rare disease (Haendel et al. 2020).”
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Lucano, C., Lagorce, D., Olry, A., Ali, H., Serrière-Lanneau, V., Carvalho, M. D., Senol, A. D., Fructuoso, M., Gaillard, E., Gaillard, M.-C., et al. (2025) · medRxiv · doi:10.1101/2025.08.10.25333394 · Cited by 2
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Liu, A., Hao, W., Xu, J., Zhu, H., Yang, H., & Yang, J. (2025) · BMC Medical Education · doi:10.1186/s12909-025-07149-z · Cited by 1
“Different countries have defined RDs on factors such as the prevalence and severity, and may have implemented policies to address these conditions [1].”
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Dieris-Hirche, J., Herpertz, S., Hebestreit, H. U., Bârlescu, L. A., Berger, A., Brandstetter, L., Deckert, J., de Greck, M., Gündel, H., Haas, K., et al. (2025) · Psychiatry Research · doi:10.1016/j.psychres.2025.116509 · Cited by 1
“It can even mimic the symptoms of a somatic disease (Haendel et al., 2020; Kolb-Niemann and Kruse, 2019).”
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Trzupek, K. M., Bhargava, R., Kuan, C., Sie, F., Vogel‐Farley, V. K., Hobbs, K., Chung, V., Diaz, M., Rigby, C. S., Geraci, J., et al. (2025) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2025.100462 · Cited by 1
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Нефедова, Л. Н., & Krasnova, T. N. (2025) · Biochemistry (Moscow) · doi:10.1134/s0006297925600383 · Cited by 1
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Wang, X., Jiang, H., Huang, Z., Dong, C., Zhu, W., Zhang, S., & Zhi, Y. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03882-2 · Cited by 1
“To date, more than 10,000 rare diseases have been identified [3].”
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“As such, their impact extends beyond physical health, significantly affecting the emotional and psychosocial well-being of families [2].”
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Obregón, L., Coca, J. R., Gómez, N., & Redondo, S. (2025) · International Journal of Inclusive Education · doi:10.1080/13603116.2025.2577267 · Cited by 1
“Thus, the most probable number of RD is currently considered to be between 6,000 and 8,000, although some authors estimate that there are 10,000 different pathologies (Haendel et al. 2020; Might and Crouse 2022; Smith, Bergman, and Hagey 2022).”
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Pflock, S., Mücke, H. C., Somasundaram, R., & Diehl-Wiesenecker, E. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04111-6 · Cited by 1
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Douglas, C. M. W., Kleinhout‐Vliek, T., Hagendijk, R., Rabeharisoa, V., Boon, W., Aith, F., Cláudio Cordovil Oliveira, U. F. R. J., Grunebaum, S., & Moors, E. H. M. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04132-1 · Cited by 1
“With an estimated 10,000 rare diseases [1] representing about 473 million patients globally [2], only about 4–5% of those diseases have treatments in the USA [3] and EU [4], the global leaders in terms of number of products available [5].”
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Kitahara, K., & Kano, S. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04135-y · Cited by 2
“Rare diseases (RDs), which are medical conditions with a low prevalence in the general population, have an estimated prevalence of more than 7,000 diseases worldwide [1].”
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Mussio, I., Triunfo, P., Gerstenblüth, M., Raggio, V. E., Cardozo, P., Naya, H., & Spangenberg, L. (2026) · BMC Health Services Research · doi:10.1186/s12913-025-13999-6 · Cited by 1
“An estimated 7,000 RD have been identified worldwide, although this figure varies by source and ranges from 5,500 to 10,000 [2, 3].”
AI succeeds in diagnosing rare diseases
Lassmann, T. (2026) · Nature · doi:10.1038/d41586-026-00290-9 · Cited by 1
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Çubuk, H., Plech, M., Aslanzadeh, V., Zikánová, M., Škopová, V., Kmoch, S., Shen, Y., Marsh, J. A., & Kudla, G. (2026) · Cell Systems · doi:10.1016/j.cels.2026.101595 · Cited by 2
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“Rare diseases collectively affect an estimated 10% of the global population, corresponding to approximately 500 million people worldwide [1].”
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Jackson, J., & Berg, J. S. (2026) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2026.06.001 · Cited by 1
“5,7 Thus, there is a high burden of pediatric-onset rare diseases for which prompt diagnosis may be important for patient outcomes.”
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Anwar, S., & Yokota, T. (2026) · Genes · doi:10.3390/genes17070780 · Cited by 1
“Current estimates frequently cite several thousand distinct rare diseases, typically between 7000 and 10,000, and place the global affected population at more than 300 million [1,5].”
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Fang, S.-S., & Chen, S. (2026) · The Egyptian Journal of Neurology Psychiatry and Neurosurgery · doi:10.1186/s41983-026-01208-y · Cited by 1
“Approximately 7000 rare diseases affect an estimated 400 million individuals globally, with neurological conditions comprising 30–40% of this burden [1–3].”
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Nurchis, M. C., Raspolini, G. M., Alizadeh, A. H., Altamura, G., Radio, F. C., Tartaglia, M., Dallapiccola, B., & Damiani, G. (2023) · Journal of Personalized Medicine · doi:10.3390/jpm13060899 · Cited by 1
“There are more than 10,000 known RDs presently, affecting about 300 million individuals worldwide [1].”
Background
Doenças raras do tipo genodermatose: um foco para a engenharia de tecidos
Giorno, L. P., & Santos, A. R. (2023) · Research Society and Development · doi:10.33448/rsd-v12i5.41829 · Cited by 1
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“16 In this sense, it is essential to identify and monitor affected individuals in order to minimize the associated clinical consequences and improve their quality of life.”
Background
La odisea de las enfermedades raras
Salgado, G. D. M., Martínez-Duncker, I., & Muñoz, M. E. C. (2024) · Inventio, la génesis de la cultura universitaria en Morelos · doi:10.30973/inventio/2023.19.49/7
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“The number of rare diseases (RDs), defined in the European Union (EU) as having a prevalence of less than 5 per 10,000 persons [1], is currently estimated to surpass 10,000 [2].”
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“However, diagnosing rare diseases in newborns is particularly challenging, as their symptoms often resemble those of more common neonatal conditions, leading to frequent misdiagnoses [2, 3, 6, 10].”
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Cioffi, G., Andreu, P., Karam, J., Child, C., & Chiesi, G. (2021) · Research Square · doi:10.21203/rs.3.rs-936611/v1 · Cited by 1
Disease-causing variant recommendation system for clinical genome interpretation with adjusted scores for artefactual variantsPreprint
Kim, H. H., Woo, J., Kim, D., Lee, J., Seo, G. H., Lee, H., & Lee, K. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.10.12.511857 · Cited by 1
“Introduction Rare disorders (RD), of which 80% have genetic causes, are estimated to affect approximately 6% of the global population [1, 2].”
Background
Editorial: Whole Genome Sequencing for rare diseases
Resta, C. D., & D’Argenio, V. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1267930 · Cited by 1
Genetic newborn screening stakeholder perspectivesPreprint
Kariyawasam, D. S. T., Scarfe, J., Meagher, C. E., Farrar, M. A., Bhattacharya, K., Carter, S. M., Newson, A. J., Otlowski, M. F. A., Watson, J., Millis, N., et al. (2024) · medRxiv · doi:10.1101/2024.02.11.24302654 · Cited by 1
NeoGx: Machine Learning to Predict Genetic Evaluation Need in the Level IV NICUPreprint
Antoniou, A. A., Gordon, D. M., Kubatko, A., White, P., & Chaudhari, B. P. (2024) · medRxiv · doi:10.1101/2024.06.24.24309403 · Cited by 1
Industrializing yeast as a drug repurposing platform for inherited metabolic diseasesPreprint
Thevandavakkam, M. A., Long, N. E., Roel, B. M., Kantautas, K. A., Zakin, S., Duesterberg, V. K., & Perlstein, E. O. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.23.609415 · Cited by 1
Current State and Demographic Trends of Medically Underserved Populations in Rare Disease Research in the United StatesPreprint
Manjunatha, L., Saundarya, M. S., Dokuru, D. R., Venugopal, N., Waldrop, J. N., Blount, L. G., Kartha, R. V., & Rajasimha, H. K. (2025) · medRxiv · doi:10.1101/2025.04.30.25326209 · Cited by 1
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperabilityPreprint
Graefe, A. S. L., Rehburg, F., Alkarkoukly, S., Daniš, D., Grönke, A., Hübner, M. R., Bartschke, A., Debertshäuser, T., Klopfenstein, S. A. I., Saß, J., et al. (2025) · medRxiv · doi:10.1101/2025.05.09.25327342 · Cited by 1
“More than 10,000 distinct rare diseases have been identified 2 , the majority of which are genetic in origin and first manifest during childhood 1 .”
Self-citation
Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant EffectsPreprint
Çubuk, H., Plech, M., Aslanzadeh, V., Zikánová, M., Škopová, V., Kmoch, S., Shen, Y., Marsh, J. A., & Kudla, G. R. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.15.670494 · Cited by 1
COVID-19 PANDEMİSİNİN NADİR HASTALIĞI OLAN BİREYLER ÜZERİNDEKİ ETKİSİ
Güre, M. D. P. (2021) · Turkish Journal of Family Medicine & Primary Care · doi:10.21763/tjfmpc.918503
Education and Information Need for Emergency Physicians About Rare Diseases in ChinaPreprint
Zhou, L., Xu, J., & Yang, J. (2022) · Research Square · doi:10.21203/rs.3.rs-1206705/v1
Impact of the COVID-19 Pandemic on the Care of Rare and Undiagnosed Diseases Patients in France: A Longitudinal Population-Based StudyPreprint
Soussand, L., Kuchenbuch, M., Messiaen, C., Sandrin, A., Jannot, A., & Nabbout, R. (2022) · SSRN Electronic Journal · doi:10.2139/ssrn.4005188
Impact of the Covid-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based studyPreprint
Soussand, L., Kuchenbuch, M., Messiaen, C., Sandrin, A., Jannot, A., & Nabbout, R. (2022) · Research Square · doi:10.21203/rs.3.rs-1664716/v1
Barriers and facilitators to the implementation of guidelines in rare diseases: A systematic reviewPreprint
Gittus, M., Chong, J., Sutton, A., Ong, A. C. M., & Fotheringham, J. (2022) · Research Square · doi:10.21203/rs.3.rs-1646922/v1
Exploring deep learning methods for recognizing rare diseases and their clinical manifestations from textsPreprint
Segura-Bédmar, I., Camino-Perdones, D., & Guerrero‐Aspizua, S. (2022) · Research Square · doi:10.21203/rs.3.rs-1569369/v1 · Cited by 1
JORD Editor-in-Chief’s welcome: rare diseases from science to practice
Soliman, N. A. (2022) · Journal of Rare Diseases · doi:10.1007/s44162-022-00001-8
“Yet the lack of robust knowledge of the number of RDs and thus the number of affected patients is still a limiting factor in tackling RDs cumulative burden and efforts to ease it [2].”
Background
Analysis of the Clinical Research Status of 121 Rare Diseases in ChinaPreprint
Yuan, Z., Qin, Y., Yin, H., Li, L., Yang, Y., Gao, D., & Liu, H. (2022) · Research Square · doi:10.21203/rs.3.rs-1915891/v1
Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
Cheon, C. K., Shin, Y. B., Kim, S.-Y., Seo, G. H., Lee, H., Keum, C., & Oh, S. H. (2022) · Journal of genetic medicine · doi:10.5734/jgm.2022.19.2.76
Oral Health Provider Perspective on Facilitators and Barriers to Rare Disease Diagnosis and ManagementPreprint
Beisang, A., Dupuis, D., CADY, R. G., Nelsen, K., Beiraghi, S., & Barnes, E. (2023) · Research Square · doi:10.21203/rs.3.rs-2621747/v1
Approach to adult-onset mendelian disorders
Al-Beshri, A. S. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-824010-6.00052-6
Multidimensional Evidence Generation: A Paradigm Shift Post-Pandemic Enhancing Policy Implementation for India’s Health System
Mubayi, A., & Mubayi, A. (2022) · International Journal of Health Technology and Innovation · doi:10.60142/ijhti.v1i02.35
“On the other hand, only 5% of the roughly 7,000 rare diseases (mutations on a gene) have an approved drug, leaving thousands of conditions without a cure (Haendel et al., 2020).”
Background
SANSformers: Self-Supervised Forecasting in Electronic Health Records with Attention-Free ModelsPreprint
Kumar, Y., Ilin, A., Salo, H., Kulathinal, S., Leinonen, M. K., & Marttinen, P. (2023) · doi:10.36227/techrxiv.23911365.v1
SANSformers: Self-Supervised Forecasting in Electronic Health Records with Attention-Free ModelsPreprint
Kumar, Y., Ilin, A., Salo, H., Kulathinal, S., Leinonen, M. K., & Marttinen, P. (2023) · doi:10.36227/techrxiv.23911365
Factores asociados al conocimiento en enfermedades raras y huérfanas en estudiantes de medicina de la Universidad Privada San Juan Bautista, Lima 2022
Zegarra, Y. D. R. C. (2022) · Universidad Privada San Juan Bautista · doi:10.59590/upsjb/fcs.med.hum/tesis/4064
A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesisPreprint
Vukadin, L., Park, B., Mohamed, M., Li, H., Elkholy, A., Torrelli-Diljohn, A., Kim, J., Jeong, K., Murphy, J. M., Harvey, C. A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.19.567732
Estimating rare disease prevalence and costs in the USA: a cohort study approach using the Healthcare Cost Institute claims data
Cutillo, C. M., Tisdale, A., Baghbanzadeh, M., Crandall, K. A., Stidd, R. L., Khural, M. S., Hartman, L. J., Greenberg, J., Zhang, K. B., & Rahnavard, A. (2024) · BMJ Public Health · doi:10.1136/bmjph-2023-000346
Rare diseases: what pediatricians need to know
Penido, M. G. M. G., Vaisbich, M. H., Palma, L. M. P., & Bresolin, N. L. (2024) · Residência Pediátrica · doi:10.25060/residpediatr-2024.v14n1-1062
Additional file 1 of Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science
Xu, M., Li, G., Li, J., Xiong, H., & He, S. (2023) · Figshare · doi:10.6084/m9.figshare.24202816
Additional file 3 of Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054321
Additional file 7 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037705
Additional file 5 of Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054330
Additional file 2 of Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054318
Additional file 2 of A disease-specific iPS cell resource for studying rare and intractable diseases
Saito, M. K., Osawa, M., Tsuchida, N., Shiraishi, K., Niwa, A., Woltjen, K., Asaka, I., Ogata, K., Ito, S., Kobayashi, S., et al. (2023) · Figshare · doi:10.6084/m9.figshare.24113141

Authors: Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., Dawkins, H., Rath, A., Thaxton, C., Bocci, G., Joachimiak, M. P., Köhler, S., Robinson, P. N., Mungall, C., & Oprea, T. I.
Affiliations: Oregon Health & Science University (US)
Lawrence Berkeley National Laboratory (US)
University of New Mexico (US)
Massachusetts General Hospital (US)
Johns Hopkins University (US)
Government of Western Australia Department of Health (AU)
Oregon State University (US)
Inserm (FR)
University of North Carolina at Chapel Hill (US)
Freie Universität Berlin (DE)
The Jackson Laboratory for Genomic Medicine (US)
Corresponding author: Haendel, Melissa
Oprea, Tudor I.
ORCID: Haendel, Melissa
Vasilevsky, Nicole
Unni, Deepak
Bologa, Cristian
Harris, Nomi
Rehm, Heidi
Hamosh, Ada
Baynam, Gareth
Groza, Tudor
McMurry, Julie
Rath, Ana
Thaxton, Courtney
Bocci, Giovanni
Joachimiak, Marcin P.
Köhler, Sebastian
Robinson, Peter N.
Mungall, Chris
Oprea, Tudor I.
Venue: Nature Reviews Drug Discovery
Publisher: Springer Science and Business Media LLC
Published: 2019-11-05
Volume: 19
Issue: 2
Pages: 77-78
ISSN: 1474-1776 (ISSN-L)
1474-1784
DOI: 10.1038/d41573-019-00180-y
PMC: PMC7771654
OpenAlex: W2988630324
Cited by: 554
References: 6
Citations by year: 2026: 69 · 2025: 115 · 2024: 133 · 2023: 100 · 2022: 75 · 2021: 46 · 2020: 15 · 2019: 1
FWCI: 22.15
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springernature.com/gp/researchers/text-and-data-mining (tdm)
www.springernature.com/gp/researchers/text-and-data-mining (vor)
Locations: Nature Reviews Drug Discovery (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
eScholarship (California Digital Library) (submittedVersion)
Funders: National Institutes of Health (U24TR002278, R24OD011883)
National Human Genome Research Institute (U41HG009650, U41HG006627, RM1HG010860, U24HG009650)
National Cancer Institute (U24CA224370, U01CA239108, P30CA118100)
National Center for Advancing Translational Sciences
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Health Sciences › Medicine › Epidemiology › Chronic Disease Management Strategies
Keywords: rare diseases, disease prevalence, disease definition, disease burden, rare disease epidemiology, rare disease research
MeSH terms: Humans, Phenotype, Rare Diseases

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