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

por Quaio, Caio Robledo D’Angioli Costa, Moreira, Caroline Monaco, Chung, Christine Hsiaoyun, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Kim, Chong Ae
Publicado 2022

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

por Quaio, Caio Robledo D'Angioli Costa, de Almeida, Tatiana Ferreira, Albano, Lilian Maria José, Gomy, Israel, Bertola, Debora Romeo, Varela, Monica Castro, Koiffmann, Celia P, Kim, Chong Ae
Publicado 2012

Tegumentary manifestations of Noonan and Noonan-related syndromes

por Quaio, Caio Robledo D'Angioli Costa, de Almeida, Tatiana Ferreira, Brasil, Amanda Salem, Pereira, Alexandre C., Jorge, Alexander A. L., Malaquias, Alexsandra C., Kim, Chong Ae, Bertola, Débora Romeo
Publicado 2013

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

por Buzolin, Ana Lígia, Moreira, Caroline Mônaco, Sacramento, Patricia Rossi, Oku, Andre Yuji, Fornari, Alexandre Ricardo dos Santos, Antonio, David Santos Marco, Quaio, Caio Robledo D Angioli Costa, Baratela, Wagner Rosa, Mitne-Neto, Miguel
Publicado 2017

Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases

por Quaio, Caio Robledo D.’Angioli Costa, Ceroni, Jose Ricardo Magliocco, Cervato, Murilo Castro, Thurow, Helena Strelow, Moreira, Caroline Monaco, Trindade, Ana Carolina Gomes, Furuzawa, Cintia Reys, de Souza, Rafaela Rogerio Floriano, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Chung, Christine Hsiaoyun, Kim, Chong Ae
Publicado 2022

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases

por Quaio, Caio Robledo D’Angioli Costa, Obando, María José Rivadeneira, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Chung, Christine Hsiaoyun, Moreira, Caroline Monaco, Novo, Gil Monteiro, Sacramento-Bobotis, Patricia Rossi, Penna, Michele Groenner, de Souza, Rafaela Rogerio Floriano, Cintra, Vivian Pedigone, Carnavalli, Juliana Emilia Prior, da Silva, Rafael Alves, Santos, Monize Nakamoto Provisor, Paixão, Daniele, Baratela, Wagner Antonio da Rosa, Olivati, Caroline, Spolador, Gustavo Marquezani, Pintao, Maria Carolina, Fornari, Alexandre Ricardo dos Santos, Burger, Matheus, Ramalho, Rodrigo Fernandes, Pereira, Otavio Jose Eulalio, Ferreira, Elisa Napolitano e, Mitne-Neto, Miguel, Kim, Chong Ae
Publicado 2021

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