Publisher
Springer Science and Business Media LLC
Reference49 articles.
1. Pullen, T. J. et al. Identification of genes selectively disallowed in the pancreatic islet. Islets 2, 89–95 (2010).
2. Spielmann, M. & Mundlos, S. Looking beyond the genes: the role of non-coding variants in human disease. Hum. Mol. Genet. 25, R157–R165 (2016).
3. Ferreira, C. R. The burden of rare diseases. Am. J. Med. Genet. A 179, 885–892 (2019).
4. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. Online Mendelian Inheritance in Man, OMIM https://omim.org/ (2021).
5. Turro, E. et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583, 96–102 (2020).