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

Transcriptomic characterization of transitioning cell types in the skin of Atlantic salmon.

大西洋鲑鱼皮肤中转变细胞类型的转录组学特征

Ruiz Daniels R, Salisbury S J, Sveen L, Villamayor P R, Taylor R S, Vaadal M, Tengs T, Krasnov A, Monaghan S J, Ballantyne M, Penaloza C, Fast M D, Bron J E, Houston R, Robinson N, Robledo D

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

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

Exploring genetic resistance to infectious salmon anaemia virus in Atlantic salmon by genome-wide association and RNA sequencing

利用全基因组关联分析和RNA测序技术探索大西洋鲑鱼对传染性鲑鱼贫血病毒的遗传抗性

Gervais, O; Barria, A; Papadopoulou, A; Gratacap, R L; Hillestad, B; Tinch, A E; Martin, S A M; Robledo, D; Houston, R D

Quantitative trait loci and genes associated with salmonid alphavirus load in Atlantic salmon: implications for pancreas disease resistance and tolerance

大西洋鲑鱼体内鲑科甲病毒载量相关的数量性状位点和基因:对胰腺疾病抵抗力和耐受性的影响

Aslam, M L; Robledo, D; Krasnov, A; Moghadam, H K; Hillestad, B; Houston, R D; Baranski, M; Boison, S; Robinson, N A

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