Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
Quaio, Caio Robledo D'Angioli Costa, Chung, Christine Hsiaoyun, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Moreira, Caroline Monaco, Filho, Gil Monteiro Novo, Sacramento‐Bobotis, Patricia Rossi, Penna, Michele Groenner, Souza, Rafaela Rogerio Floriano, Cintra, Vivian Pedigone, Carnavalli, Juliana Emilia Prior, Silva, Rafael Alves, Paixão, Daniele, Baratela, Wagner Antonio da Rosa, Olivati, Caroline, Spolador, Gustavo Marquezani, Santos, Monize Nakamoto Provisor, Pintao, Maria Carolina, Fornari, Alexandre Ricardo dos Santos, Burger, Matheus, Ramalho, Rodrigo Fernandes, Pereira, Otavio Jose Eulalio, Ferreira, Elisa Napolitano, Mitne‐Neto, Miguel, Kim, Chong Ae
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Get full text
Journal Article
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
Quaio, Caio Robledo D’Angioli Costa, Obando, María José Rivadeneira, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Chung, Christine Hsiaoyun, Moreira, Caroline Monaco, Novo Filho, Gil Monteiro, Sacramento-Bobotis, Patricia Rossi, Penna, Michele Groenner, Souza, Rafaela Rogerio Floriano de, Cintra, Vivian Pedigone, Carnavalli, Juliana Emilia Prior, Silva, Rafael Alves da, 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
Published in Genetics and molecular biology (01.01.2021)
Published in Genetics and molecular biology (01.01.2021)
Get full text
Journal Article
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases
Quaio, Caio Robledo D'Angioli Costa, Moreira, Caroline Monaco, Novo‐Filho, Gil Monteiro, Sacramento‐Bobotis, Patricia Rossi, Groenner Penna, Michele, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Silva, Rafael Alves, Santos, Monize Nakamoto Provisor, Arruda, Vanessa Yurie Nozaki, Freitas, Vanessa Galdeno, Pereira, Vinícius Ceola, Pintao, Maria Carolina, Fornari, Alexandre Ricardo dos Santos, Buzolin, Ana Lígia, Oku, Andre Yuji, Burger, Matheus, Ramalho, Rodrigo Fernandes, Marco Antonio, David Santos, Ferreira, Elisa Napolitano, Pereira, Otavio Jose Eulalio, Cantagalli, Vanessa Dionisio, Trindade, Ana Carolina Gomes, Sousa, Rafaela Rogerio Floriano, Reys Furuzawa, Cintia, Verzini, Fernanda, Matalhana, Shirley Dezan, Romano, Naiade, Paixão, Daniele, Olivati, Caroline, Spolador, Gustavo Marquezani, Maciel, Gustavo Arantes Rosa, Rocha, Viviane Zorzanelli, Miguelez, Javier, Carvalho, Mario Henrique Burlacchini, Souza, Alexandre Wagner Silva, Andrade, Luis Eduardo Coelho, Chauffaille, Maria de Lourdes, Perazzio, Aline dos Santos Borgo, Catelani, Ana Lucia Pereira Monteiro, Mitne‐Neto, Miguel, Kim, Chong Ae, Baratela, Wagner Antonio da Rosa
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
Get full text
Journal Article