1.European Organisation for Rare Diseases. Rare Diseases: Understanding this Public Health Priority. (Eurodis, 2005).2.Boycott, K. M. et al. International cooperation to enable the diagnosis of all rare genetic diseases. Am. J. Hum. Genet. 100, 695–705 (2017).3.Quintana-Murci, L. Understanding rare and common diseases in the context of human evolution. Genome Biol. 17, 225 (2016).4.Amberger, J., Bocchini, C. A., Scott, A. F. & Hamosh, A. Mckusick's online mendelian inheritance in man (OMIM). Nucleic Acids Res.
