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

Genome-wide detection of human 5' UTR variants that impact protein translation

全基因组检测影响蛋白质翻译的人类5'UTR变异

Chaldebas, Matthieu; Ponsin, Khoren; Bohlen, Jonathan; Conil, Clement; Mourelatos, Haralambos; Stenson, Peter D; Cooper, David N; Abel, Laurent; Casanova, Jean-Laurent; Cobat, Aurélie; Zhang, Peng

A POMT2 missense substitution contributes to hypoxia adaptation in hibernating mammals

POMT2错义突变有助于冬眠哺乳动物适应低氧环境

Zhang, Jinjin; Zhang, Xiuping; Liu, Ningyawen; Hu, Jiang; Hiller, Michael; Sharma, Virag; Han, Fengming; Dai, He; Tu, Xiaolong; Cooper, David N; Wu, Dong-Dong; Zeng, Lin

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification

当剪接并非全有或全无时:GT>GC 5'剪接位点变异作为中间效应的模型及变异分类的挑战

Lin, Jin-Huan; Wu, Hao; Tang, Xin-Ying; Masson, Emmanuelle; Stenson, Peter D; Phillips, Andrew D; Cooper, David N; Férec, Claude; Liao, Zhuan; Zou, Wen-Bin; Chen, Jian-Min

Predicting interaction-specific protein-protein interaction perturbations by missense variants with MutPred-PPI

利用 MutPred-PPI 预测错义变异引起的蛋白质-蛋白质相互作用特异性扰动

Stewart, Ross; Laval, Florent; Coppin, Georges; Spirohn-Fitzgerald, Kerstin; Tixhon, Maxime; Hao, Tong; Calderwood, Michael A; Mort, Matthew; Cooper, David N; Vidal, Marc; Radivojac, Predrag

Ancestry-specific performance of variant effect predictors in clinical variant classification

临床变异分类中变异效应预测器的祖源特异性性能

Hoffing, Rachel; Zeiberg, Daniel; Stenton, Sarah L; Mort, Matthew; Cooper, David N; Hahn, Matthew W; O'Donnell-Luria, Anne; Ward, Lucas D; Radivojac, Predrag

Development of a genetic priority score to predict drug side effects using human genetic evidence

利用人类遗传证据开发预测药物副作用的遗传优先评分

Duffy, Áine; Chen, Robert; Stein, David; Park, Joshua K; Mort, Matthew; Verbanck, Marie; Schlessinger, Avner; Itan, Yuval; Cooper, David N; Jordan, Daniel M; Rocheleau, Ghislain; Do, Ron

Forward and reverse genomic screens enhance the understanding of phenotypic variation in a large Chinese rhesus macaque cohort

正向和反向基因组筛选增强了对中国大型恒河猴群体表型变异的理解。

Zhang, Bao-Lin; Chen, Yongxuan; Zhang, Yali; Qiao, Yicheng; Wu, Yang; Zhang, Yi; Lu, Yizheng; You, Xinran; Li, Yanling; Huang, Hong-Di; Wang, Qiong; Li, Yijiang; Wang, Yun; Xiao, Wenxian; Duan, Hexian; Qiu, Ming-Hao; Chen, Nan-Hui; Yu, Xiaomei; Yang, Min-Min; Lv, Longbao; Cooper, David N; Zheng, Ping; Yao, Yong-Gang; Liu, Ning; Wang, Jian-Hong; Wu, Dong-Dong

Expanding the utility of variant effect predictions with phenotype-specific models

利用表型特异性模型扩展变异效应预测的实用性

Stein, David; Kars, Meltem Ece; Milisavljevic, Baptiste; Mort, Matthew; Stenson, Peter D; Casanova, Jean-Laurent; Cooper, David N; Boisson, Bertrand; Zhang, Peng; Schlessinger, Avner; Itan, Yuval

Regional and aging-specific cellular architecture of non-human primate brains.

非人灵长类动物大脑的区域性和年龄特异性细胞结构

Wang Yun-Mei, Wang Wen-Chao, Pan Yongzhang, Zeng Lin, Wu Jing, Wang Zheng-Bo, Zhuang Xiao-Lin, Li Ming-Li, Cooper David N, Wang Sheng, Shao Yong, Wang Li-Min, Fan Ying-Yin, He Yonghan, Hu Xin-Tian, Wu Dong-Dong

SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges

SPINK1相关慢性胰腺炎:一个涵盖变异效应、遗传复杂性和分类挑战的模型

Wang, Yuan-Chen; Masson, Emmanuelle; Wang, Qi-Wen; Génin, Emmanuelle; Le Gac, Gérald; Fichou, Yann; Cooper, David N; Liao, Zhuan; Férec, Claude; Zou, Wen-Bin; Chen, Jian-Min