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

Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?

SCA45 是否会导致极晚发性纯小脑性共济失调?

Tonholo Silva, Thiago Y; Rosa, Augusto B R; Quaio, Caio R; Verbeek, Dineke; Pedroso, José Luiz; Barsottini, Orlando

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

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

基因表达谱提示两例巴西布卢姆综合征患者存在免疫失调

Marilia M Montenegro, Caio R Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel-Santos, Julian Damasceno, Estela M Novak, Thamires M Gimenez, Guilherme L Yamamoto, Rachel S Ronjo, Gil M Novo-Filho, Samar N Chehimi, Evelin A Zanardo, Alexandre T Dias, Amom M Nascimento, Thais V M M Costa, Albe

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

染色质重塑因子BPTF的单倍体不足会导致综合征性发育和语言迟缓、出生后小头畸形和面部畸形。

Paweł Stankiewicz,Tahir N Khan,Przemyslaw Szafranski,Leah Slattery,Haley Streff,Francesco Vetrini,Jonathan A Bernstein,Chester W Brown,Jill A Rosenfeld,Surya Rednam,Sarah Scollon,Katie L Bergstrom,Donald W Parsons,Sharon E Plon,Marta W Vieira,Caio R D C Quaio,Wagner A R Baratela,Johanna C Acosta Guio,Ruth Armstrong,Sarju G Mehta,Patrick Rump,Rolph Pfundt,Raymond Lewandowski,Erica M Fernandes,Deepali N Shinde,Sha Tang,Juliane Hoyer,Christiane Zweier,André Reis,Carlos A Bacino,Rui Xiao,Amy M Breman,Janice L Smith