日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Editorial: Genetics of non-syndromic hearing loss

社论:非综合征性听力损失的遗传学

Quaio, Caio Robledo D' Angioli Costa; Battelino, Saba

A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives

巴西神经病学领域全外显子组测序十年回顾:从过去的见解到未来的展望

Quaio, Caio Robledo D'Angioli Costa; Silva, Thiago Yoshinaga Tonholo; Barsottini, Orlando G; Camargos, Sarah Teixeira; França, Marcondes C Junior; Saute, Jonas A; Marques, Wilson Junior; Kok, Fernando; Pedroso, José Luiz

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

以色列阿尔伯特·爱因斯坦医院关于体质序列变异分类的标准:2023版

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

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders

对DEAF1相关神经发育障碍中新生DEAF1变异的扩展和机制性见解

Stacey R McGee,Shivakumar Rajamanickam,Sandeep Adhikari,Oluwatosin C Falayi, Theresa A Wilson,Brian J Shayota,Jessica A Cooley Coleman,Cindy Skinner,Raymond C Caylor,Roger E Stevenson,Caio Robledo D' Angioli Costa Quaio,Berenice Cunha Wilke,Jennifer M Bain,Kwame Anyane-Yeboa,Kaitlyn Brown,John M Greally,Emilia K Bijlsma,Claudia A L Ruivenkamp,Keren Politi,Lydia A Arbogast,Michael W Collard,Jodi I Huggenvik,Sarah H Elsea,Philip J Jensik

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

对未受影响个体中非综合征性听力损失的基因组研究:巴西 2097 个基因组队列中致病性和可能致病性变异的频率

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

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

对500名巴西罕见病患者进行外显子组测序:我们学到了什么

Quaio, Caio Robledo D'Angioli Costa; Moreira, Caroline Monaco; Chung, Christine Hsiaoyun; Perazzio, Sandro Felix; Dutra, Aurelio Pimenta; Kim, Chong Ae

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

外显子组测序和靶向基因panel:基于158例罕见病患者数据的诊断效能模拟比较

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

Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation

一名患有新生儿血色素沉着症的婴儿的生化特征显示线粒体长链脂肪酸氧化功能受损。

Bastos, Karina Lucio de Medeiros; Quaio, Caio Robledo; Lima, Fabiana Roberto; Araújo, Iana Manuelle; Araújo, Candice Alves Tavares; Piazzon, Flávia Balbo; Silva, Ismael Dale Cotrim Guerreiro da; Benevides, Gabriel Nuncio; Tannuri, Ana Cristina; Tannuri, Uenis; Azevedo, Ramiro Anthero; Kim, Chong Ae

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

基于 Ion Torrent 技术的 BRCA1 和 BRCA2 基因变异检测工作流程的开发和验证及其临床应用

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

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

编码 SNF2 相关 CREBBP 激活蛋白的 SRCAP 基因突变会导致漂浮港综合征。

Hood, Rebecca L; Lines, Matthew A; Nikkel, Sarah M; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Małgorzata J M; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whiteford, Margo L; Quaio, Caio Robledo D C; Gomy, Israel; Bertola, Debora R; Albrecht, Beate; Platzer, Konrad; McGillivray, George; Zou, Ruobing; McLeod, D Ross; Chudley, Albert E; Chodirker, Bernard N; Marcadier, Janet; Majewski, Jacek; Bulman, Dennis E; White, Susan M; Boycott, Kym M