• Fehr S, Downs J, Bebbington A, Leonard H. 2010. Atypical presentations and specific genotypes are associated with a delay in diagnosis in diagnosis in females with Rett syndrome. Am J Med Genet Part A 152A: 25352542.
  • Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, De Klerk N, Leonard H. 2011. Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res 70: 313319.
  • Lim F, Downs J, Li J, Bao X-H, Leonard H. In press. Barriers to diagnosis of a rare neurological disorder in China—Lived experiences of Rett syndrome families. Am J Med Genet Part A 9999: 18.
  • Zurynski Y, Frith K, Leonard H, Elliott E. 2008. Rare childhood diseases: How should we respond? Arch Dis Child 93: 10711107.