The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://www.nature.com/articles/s41390-020-01151-5.pdf
Reference62 articles.
1. Ferreira, C. R. The burden of rare diseases. Am. J. Med. Genet. A 179, 885–892 (2019).
2. Xu, J. Q., Murphy, S. L., Kochanek, K. D. & Arias, E. Mortality in the United States, 2018. NCHS Data Brief. 1–8 (2020).
3. Boyle, B. et al. Estimating global burden of disease due to congenital anomaly: an analysis of European data. Arch. Dis. Child. Fetal Neonatal Ed. 103, F22–F28 (2018).
4. Bamshad, M. J., Nickerson, D. A. & Chong, J. X. Mendelian gene discovery: fast and furious with no end in sight. Am. J. Hum. Genet. 105, 448–455 (2019).
5. Shashi, V. et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet. Med. 16, 176–182 (2014).
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