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

An engineered U7 small nuclear RNA scaffold greatly increases ADAR-mediated programmable RNA base editing

经过改造的U7小核RNA支架显著增强了ADAR介导的可编程RNA碱基编辑

Byrne, Susan M; Burleigh, Stephen M; Fragoza, Robert; Jiang, Yue; Savva, Yiannis; Pabon, Ricky; Kania, Evan; Rainaldi, Joseph; Portell, Andrew; Mali, Prashant; Briggs, Adrian W

In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes

体内与计算机模拟评估人类生殖基因中潜在致病性错义变异

Ding, Xinbao; Singh, Priti; Schimenti, Kerry; Tran, Tina N; Fragoza, Robert; Hardy, Jimmaline; Orwig, Kyle E; Olszewska, Marta; Kurpisz, Maciej K; Yatsenko, Alexander N; Conrad, Donald F; Yu, Haiyuan; Schimenti, John C

Variants in RABL2A causing male infertility and ciliopathy.

RABL2A 基因变异导致男性不育和纤毛病

Ding Xinbao, Fragoza Robert, Singh Priti, Zhang Shu, Yu Haiyuan, Schimenti John C

Interactome INSIDER: a structural interactome browser for genomic studies

Interactome INSIDER:用于基因组研究的结构互作组浏览器

Meyer, Michael J; Beltrán, Juan Felipe; Liang, Siqi; Fragoza, Robert; Rumack, Aaron; Liang, Jin; Wei, Xiaomu; Yu, Haiyuan

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.

相互作用组扰动框架优先考虑导致发育障碍的有害错义突变

Chen Siwei, Fragoza Robert, Klei Lambertus, Liu Yuan, Wang Jiebiao, Roeder Kathryn, Devlin Bernie, Yu Haiyuan

Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations

从分子表型中提取互补信息以优先识别疾病相关突变

Wierbowski, Shayne D; Fragoza, Robert; Liang, Siqi; Yu, Haiyuan

Exploring mechanisms of human disease through structurally resolved protein interactome networks

通过结构解析的蛋白质相互作用组网络探索人类疾病机制

Das, Jishnu; Fragoza, Robert; Lee, Hao Ran; Cordero, Nicolas A; Guo, Yu; Meyer, Michael J; Vo, Tommy V; Wang, Xiujuan; Yu, Haiyuan

Integrative annotation of variants from 1092 humans: application to cancer genomics

对来自 1092 个人类样本的变异进行整合注释:在癌症基因组学中的应用

Khurana, Ekta; Fu, Yao; Colonna, Vincenza; Mu, Xinmeng Jasmine; Kang, Hyun Min; Lappalainen, Tuuli; Sboner, Andrea; Lochovsky, Lucas; Chen, Jieming; Harmanci, Arif; Das, Jishnu; Abyzov, Alexej; Balasubramanian, Suganthi; Beal, Kathryn; Chakravarty, Dimple; Challis, Daniel; Chen, Yuan; Clarke, Declan; Clarke, Laura; Cunningham, Fiona; Evani, Uday S; Flicek, Paul; Fragoza, Robert; Garrison, Erik; Gibbs, Richard; Gümüş, Zeynep H; Herrero, Javier; Kitabayashi, Naoki; Kong, Yong; Lage, Kasper; Liluashvili, Vaja; Lipkin, Steven M; MacArthur, Daniel G; Marth, Gabor; Muzny, Donna; Pers, Tune H; Ritchie, Graham R S; Rosenfeld, Jeffrey A; Sisu, Cristina; Wei, Xiaomu; Wilson, Michael; Xue, Yali; Yu, Fuli; Dermitzakis, Emmanouil T; Yu, Haiyuan; Rubin, Mark A; Tyler-Smith, Chris; Gerstein, Mark