Discovering the genetic etiologies of rare diseases in large patient collections
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Link
https://www.nature.com/articles/s41591-023-02218-6.pdf
Reference5 articles.
1. Turro, E. et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583, 96–102 (2020). An article demonstrating a synergy by using genome sequencing for diagnosis and etiological discovery in routine healthcare.
2. Greene, D., NIHR BioResource, Richardson, S. & Turro, E. A fast association test for identifying pathogenic variants involved in rare diseases. Am. J. Hum. Genet. 101, 104–114 (2017). A description of the BeviMed genetic association method for rare diseases.
3. Shah, A. V., Birdsey, G. M. & Randi, A. M. Regulation of endothelial homeostasis, vascular development and angiogenesis by the transcription factor ERG. Vascul. Pharmacol. 86, 3–13 (2016). A review of the main roles of ERG in the vascular endothelium.
4. Loeys, B. L. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37, 275–281 (2005). A description of LDS as a newly discovered genetic disorder.
5. Kindt, K. S. et al. EMX2-GPR156-Gαi reverses hair cell orientation in mechanosensory epithelia. Nat. Commun. 12, 2861 (2021). An article identifying GPR156 as a critical regulator of stereocilia orientation.
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