1. Spotlight on rare diseases;E. The Lancet Diabetes;Lancet Diabetes Endocrinol.,2019
2. OMIM.org: Online Mendelian Inheritance in Man (OMIM® an online catalog of human genes and genetic disorders);Amberger;Nucleic Acids Res.,2015
3. Paediatric genomics: diagnosing rare disease in children;Wright;Nat. Rev. Genetics,2018
4. Whole genome sequencing expands diagnostic utility and improves clinical management in pediatric medicine;Stavropoulos;NPJ Genom. Med.,2016
5. Integrating genomics into healthcare: a global responsibility;Stark;Am. J. Hum. Genet.,2019