Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned

Sao Paulo Med J. 2022 Sep-Oct;140(5):734-736. doi: 10.1590/1516-3180.2022.0076.R1.21072022.

Caio Robledo D'Angioli Costa Quaio^{1

2

3}, Caroline Monaco Moreira⁴, Christine Hsiaoyun Chung⁵, Sandro Felix Perazzio^{6

7

8}, Aurelio Pimenta Dutra⁹, Chong Ae Kim¹⁰

¹ MD. Researcher and PhD Candidate, Instituto da Criança (ICr), Hospital das Clinicas HCFMUSP, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, BR.
² Medical Geneticist, Fleury Medicina e Saúde, São Paulo (SP), Brazil.
³ Medical Geneticist, Laboratório Clínico, Hospital Israelita Albert Einstein (HIAE), São Paulo (SP), Brazil.
⁴ MSc. Molecular Biology Leader, Fleury Medicina e Saúde, São Paulo (SP), Brazil.
⁵ MD. Medical Geneticist, Fleury Medicina e Saúde, São Paulo (SP), Brazil.
⁶ MD, PhD. Immunology Division, Fleury Medicina e Saúde, São Paulo (SP), Brazil.
⁷ Division of Rheumatology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
⁸ Central Laboratory, Hospital das Clinicas HCFMUSP, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
⁹ MD, PhD. Neurology Division, Fleury Medicina e Saúde, São Paulo (SP), Brazil.
¹⁰ MD, PhD. Head of Genetics Unit and Associate Professor, Instituto da Criança (ICr), Hospital das Clinicas HCFMUSP, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, BR.

No abstract available

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