Quaio, C. R. D. C., C. M. Moreira, C. H. Chung, S. F. PerazzioI, A. P. Dutra, and C. A. Kim. “Exome Sequencing of 500 Brazilian Patients With Rare Diseases: What We Have Learned”. São Paulo Medical Journal, vol. 140, no. 5, Sept. 2022, pp. 734-6, https://periodicosapm.emnuvens.com.br/spmj/article/view/1053.