1. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). Online Mendelian Inheritance in Man, OMIM®, https://omim.org / [Internet]. 2018. Available from: https://omim.org /.
2. Institute of Medicine (US). Committee on accelerating rare diseases research and orphan product development. 2, Profile of rare diseases. In: Field MJ, Boat TF, editors. Rare diseases and orphan products: accelerating research and development. Washington (DC): National Academies Press (US); 2010. Available from: https://www.ncbi.nlm.nih.gov/books/NBK56184 /.
3. Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, et al. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet. 2015;97(2):199–215.
4. Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet. 2018;19(5):253–68.
5. Zappala Z, Montgomery SB. Non-coding loss-of-function variation in human genomes. Hum Hered. 2016;81(2):78–87.