The expanding diagnostic toolbox for rare genetic diseases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://www.nature.com/articles/s41576-023-00683-w.pdf
Reference157 articles.
1. Ferreira, C. R. The burden of rare diseases. Am. J. Med. Genet. A 179, 885–892 (2019). This study provided one of the first estimates of the true burden of rare disease.
2. 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).
3. Global Genes. Annual Impact Report 2020. https://globalgenes.org/wp-content/uploads/2021/03/Annual-Report-2020_FINAL.pdf (2020).
4. Costa, T., Scriver, C. R. & Childs, B. The effect of Mendelian disease on human health: a measurement. Am. J. Med. Genet. 21, 231–242 (1985).
5. Marshall, D. A. et al. Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases. Genet. Med. 21, 1049–1057 (2019).
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