The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis

por Coelho, Antonio Victor Campos, Mascaro-Cordeiro, Bruna, Lucon, Danielle Ribeiro, Nóbrega, Maria Soares, Reis, Rodrigo de Souza, de Alexandre, Rodrigo Bertollo, Moura, Livia Maria Silva, de Oliveira, Gustavo Santos, Guedes, Rafael Lucas Muniz, Caraciolo, Marcel Pinheiro, Zurro, Nuria Bengala, Cervato, Murilo Castro, Oliveira, João Bosco
Publicado 2022

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

por Quaio, Caio Robledo D’ Angioli Costa, Coelho, Antonio Victor Campos, Moura, Livia Maria Silva, Guedes, Rafael Lucas Muniz, Chen, Kelin, Ceroni, Jose Ricardo Magliocco, Minillo, Renata Moldenhauer, Caraciolo, Marcel Pinheiro, Reis, Rodrigo de Souza, de Azevedo, Bruna Mascaro Cordeiro, Nobrega, Maria Soares, Teixeira, Anne Caroline Barbosa, Martinelli Lima, Matheus, da Mota, Thamara Rayssa, da Matta, Marina Cadena, Colichio, Gabriela Borges Cherulli, Roncalho, Aline Lulho, Ferreira, Ana Flavia Martinho, Campilongo, Gabriela Pereira, Perrone, Eduardo, Virmond, Luiza do Amaral, Moreno, Carolina Araujo, Prota, Joana Rosa Marques, de França, Marina, Cervato, Murilo Castro, de Almeida, Tatiana Ferreira, de Oliveira Filho, Joao Bosco
Publicado 2022

The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023

por Quaio, Caio Robledo D’Angioli Costa, Ceroni, José Ricardo Magliocco, Pereira, Michele Araújo, Teixeira, Anne Caroline Barbosa, Yamada, Renata Yoshiko, Cintra, Vivian Pedigone, Perrone, Eduardo, De França, Marina, Chen, Kelin, Minillo, Renata Moldenhauer, Biondo, Cheysa Arielly, de Mello, Mariana Rezende Bandeira, Moura, Lais Rodrigues, do Nascimento, Amanda Thamires Batista, de Oliveira Pelegrino, Karla, de Lima, Larissa Barbosa, do Amaral Virmond, Luiza, Moreno, Carolina Araujo, Prota, Joana Rosa Marques, de Araujo Espolaor, Jessica Grasiela, Silva, Thiago Yoshinaga Tonholo, Moraes, Gabriel Hideki Izuka, de Oliveira, Gustavo Santos, Moura, Livia Maria Silva, Caraciolo, Marcel Pinheiro, Guedes, Rafael Lucas Muniz, Gretschischkin, Michel Chieregato, Chazanas, Pedro Lui Nigro, Nakamura, Carolina Naomi Izo, de Souza Reis, Rodrigo, Toledo, Carmen Melo, Lage, Fernanda Stussi Duarte, de Almeida, Giovanna Bloise, do Nascimento Júnior, José Bandeira, Cardoso, Milena Andreuzo, de Paula Azevedo, Victor, de Almeida, Tatiana Ferreira, Cervato, Murilo Castro, de Oliveira Filho, Joao Bosco
Publicado 2023