Research on rare diseases: ten years of progress and challenges at IRDiRC-Reference-Cited by-同舟云学术

Research on rare diseases: ten years of progress and challenges at IRDiRC

Published:2022-01-25 Issue:5 Volume:21 Page:319-320
ISSN:1474-1776
Container-title:Nature Reviews Drug Discovery
language:en
Short-container-title:Nat Rev Drug Discov

Author:

Monaco Lucia,Zanello Galliano,Baynam Gareth,Jonker Anneliene H.,Julkowska Daria,Hartman Adam L.,O’Connor Daniel,Wang Chiuhui Mary,Wong-Rieger Durhane,Pearce David A.

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Pharmacology,General Medicine

Link

https://www.nature.com/articles/d41573-022-00019-z.pdf

Reference5 articles.

1. Nguengang Wakap, S. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173 (2020).

2. Lochmüller, H. et al. The International Rare Diseases Research Consortium: policies and guidelines to maximize impact. Eur. J. Hum. Genet. 25, 1293–1302 (2017).

3. Austin, C. P. et al. Future of rare diseases research 2017-2027: an IRDiRC perspective. Clin. Transl. Sci. 11, 21–27 (2018).

4. Dawkins, H. J. S. et al. Progress in rare diseases research 2010-2016: an IRDiRC perspective. Clin. Transl. Sci. 11, 11–20 (2018).

5. Lochmüller, H. et al. ‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Eur. J. Hum. Genet. 25, 162–165 (2017).

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases;Orphanet Journal of Rare Diseases;2024-09-11

2. The complexity of funding rare disease research: an IRDiRC assessment of the landscape;Rare Disease and Orphan Drugs Journal;2024-09-09

3. Psychosocial experiences of clinicians providing care for children with severe neurological impairment;Developmental Medicine & Child Neurology;2024-06-05

4. Trends from two decades of orphan designations in paediatric rare neuromuscular diseases;Journal of the Neurological Sciences;2024-05

5. Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments;Human Mutation;2024-04-18