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

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

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

Altered inflammatory mucosal signatures within their spatial and cellular context during active ileal Crohn's disease.

活动性回肠克罗恩病期间,炎症黏膜特征在其空间和细胞环境中发生改变

Kolachala Vasantha L, Maddipatla Sushma Chowdary, Murthy Shanta, Hwang Yeonjoo, Dodd Anne F, Sharma Garima, Munasinghe Sachith, Pelia Ranjit Singh, Venkateswaran Suresh, Anbazhagan Murugadas, Koti Tarun, Jhita Navdeep, Joshi Gaurav N, Lopez Chrissy A, Geem Duke, Yin Hong, Cutler David J, Qiu Peng, Matthews Jason D, Kugathasan Subra

Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS

全基因组关联研究表明,唐氏综合征患者发生先天性心脏缺陷的风险存在遗传异质性。

Feldman, Elizabeth R; Li, Yunqi; Cutler, David J; Rosser, Tracie C; Wechsler, Stephanie B; Sanclemente, Lauren; Rachubinski, Angela L; Elliott, Natalina; Vyas, Paresh; Roberts, Irene; Rabin, Karen R; Wagner, Michael; Gelb, Bruce D; Espinosa, Joaquin M; Lupo, Philip J; de Smith, Adam J; Sherman, Stephanie L; Leslie-Clarkson, Elizabeth J

A powerful framework for differential co-expression analysis of general risk factors

一个强大的框架,用于对一般风险因素进行差异共表达分析

Bass, Andrew J; Cutler, David J; Epstein, Michael P

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios

通过分析816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; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Cutler, David J; Epstein, Michael P; Hecht, Jacqueline T; Uribe, Lina Moreno; Shaw, Gary M; Murray, Jeffrey C; Brand, Harrison; Weinberg, Seth M; Marazita, Mary L; Doheny, Kimberly F; Leslie-Clarkson, Elizabeth J

Identifying latent genetic interactions in genome-wide association studies using multiple traits

利用多性状在全基因组关联研究中识别潜在的遗传互作

Bass, Andrew J; Bian, Shijia; Wingo, Aliza P; Wingo, Thomas S; Cutler, David J; Epstein, Michael P

Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting

研究单细胞DNA甲基化数据在检测等位基因特异性甲基化和印记方面的潜力

Johnson, Nicholas D; Cutler, David J; Conneely, Karen N