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

Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome

整合转录组关联分析揭示PRKCG基因相关的GABA能功能障碍与脆性X染色体相关震颤/共济失调综合征有关

Jin, Yulin; Cao, Yiqu; Ma, Wenjing; Li, Ronghua; Li, Yujing; Kang, Yunhee; Huang, Jing; Epstein, Michael P; Guo, Xiangxue; Lim, Junghwa; Rivera, Natalia; Zhou, Ying; Wen, Zhexing; Allen, Emily G; Jin, Peng

Multi-tissue transcriptome-wide association study identifies 29 risk genes associated with attention-deficit/hyperactivity disorder

一项多组织转录组关联研究发现了29个与注意力缺陷/多动障碍相关的风险基因

Abrishamcar, Sarina; Dai, Qile; Yang, Jingjing; Hüls, Anke; Epstein, Michael P

Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions

多祖先脑 pQTL 精细定位及其与 21 种神经和精神疾病全基因组关联研究的整合

Wingo, Aliza P; Liu, Yue; Vattathil, Selina M; Gerasimov, Ekaterina S; Mei, Zhen; Ravindran, Suda Parimala; Liu, Jiaqi; Shantaraman, Ananth; Seifar, Fatemeh; Wang, Erming; Zhang, Bin; Reddy, Joseph; Allen, Mariet; Ertekin-Taner, Nilüfer; De Jager, Philip L; Fox, Edward J; Duong, Duc M; Epstein, Michael P; Cutler, David J; Levey, Allan I; Bennett, David A; Seyfried, Nicholas T; Wingo, Thomas S

Bridging cell morphological behaviors and molecular dynamics in multi-modal spatial omics with MorphLink

利用 MorphLink 将细胞形态行为和分子动力学在多模态空间组学中联系起来

Huang, Jing; Yuan, Chenyang; Jiang, Jiahui; Chen, Jianfeng; Badve, Sunil S; Gokmen-Polar, Yesim; Segura, Rossana L; Yan, Xinmiao; Lazar, Alexander; Gao, Jianjun; Yao, Bing; Epstein, Michael; Wang, Linghua; Hu, Jian

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios

通过分析818个三联体中改变蛋白质的新生变异,区分综合征型和非综合征型腭裂。

Robinson, Kelsey R; Curtis, Sarah W; Paschall, Justin E; Adeyemo, Wasiu Lanre; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Cutler, David J; Epstein, Michael P; Gowans, Lord J J; Hecht, Jacqueline T; Shaw, Gary M; Uribe, Lina Moreno; Murray, Jeffrey C; Brand, Harrison; Weinberg, Seth M; Marazita, Mary L; Doheny, Kimberly F; Leslie-Clarkson, Elizabeth J

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

PRKCI 的罕见变异导致 Van der Woude 综合征和皮周病的其他特征

Robinson, Kelsey; Singh, Sunil K; Walkup, Rachel B; Fawwal, Dorelle V; Vilfort, Kendra M; Koloskee, Amanda; Fashina, Azeez; Adeyemo, Wasiu Lanre; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Chung, Wendy K; Cutler, David J; Epstein, Michael P; Gasser, Brooklynn; Gowans, Lord J J; Hecht, Jacqueline T; Mankad, Anuj; Moreno Uribe, Lina; Scott, Daryl A; Shaw, Gary M; Thomas, Mary Ann; Weinberg, Seth M; Liao, Eric C; Brand, Harrison; Marazita, Mary L; Lipinski, Robert J; Murray, Jeffrey C; Cornell, Robert A; Leslie-Clarkson, Elizabeth J

CADET: Enhanced transcriptome-wide association analyses in admixed samples using eQTL summary data

CADET:利用eQTL汇总数据增强混合样本中的全转录组关联分析

Head, S Taylor; Dai, Qile; Schildkraut, Joellen; Cutler, David J; Yang, Jingjing; Epstein, Michael P

Proteome-wide association studies using summary pQTL data of brain, CSF, and plasma identify 30 risk genes of Alzheimer's disease dementia

利用脑、脑脊液和血浆的汇总pQTL数据进行全蛋白质组关联研究,鉴定出30个阿尔茨海默病痴呆的风险基因

Hu, Tingyang; Liu, Qiang; Dai, Qile; Buchman, Aron S; Bennett, David A; Tasaki, Shinya; Wang, Yanling; Seyfried, Nicholas T; De Jager, Philip L; Epstein, Michael P; Yang, Jingjing

Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies

家族性癫痫的表型异质性受全身性癫痫和局灶性癫痫的多基因风险影响。

Ellis, Colin A; Ottman, Ruth; Epstein, Michael P; Berkovic, Samuel F; Oliver, Karen L

Expectations for papers performing Mendelian randomization analyses

对进行孟德尔随机化分析的论文的期望

Williams, Scott M; Tang, Hua; Cooper, Gregory M; O'Donnell-Luria, Anne; Girirajan, Santhosh; Dudley, Aimée M; Goriely, Anne; Kutalik, Zoltán; Zhu, Xiaofeng; Sirugo, Giorgio; Epstein, Michael P