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

COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA

全面的基因研究揭示了阻塞性睡眠呼吸暂停的异质性通路

Justice, Anne E; Keenan, Brendan T; Chittoor, Geetha; Pahl, Matthew C; Hoskens, Hanne; Josyula, Navya Shilpa; Gupta, Shreyash; Kim, Soriul; Thorleifsson, Gudmar; Manduchi, Elisabetta; Gutierrez, Alejandro; Oliveira, Fernando Andrade; Ackert-Bicknell, Cheryl L; Benediktsdóttir, Bryndís; Boero, Jaime; Borthwick, Kenneth M; Chen, Ning-Hung; Cistulli, Peter A; Favazzo, Lacey J; Gottlieb, Daniel J; Hákonarson, Hákon; Kirchner, H Lester; Magalang, Ulysses J; Malow, Beth A; Mazzotti, Diego R; McArdle, Nigel; Mentch, Frank D; Morgentheler, Timothy I; Penzel, Thomas; Pippin, James A; Rasmussen-Torvik, Laura J; Shin, Chol; Singh, Bhajan; Sofer, Tamar; Veatch, Olivia J; Villani, David A; Wells, Andrew D; Williams, Marc S; Zee, Phyllis; Zuscik, Michael J; Jonsdottir, Ingileif; Gislason, Thorarinn; Robishaw, Janet; Stefánsson, Kári; Grant, Struan Fa; Hallgrimsson, Benedikt; Pack, Allan I

Variant-to-gene mapping identifies ARHGEF12 as a primary open-angle glaucoma effector gene operating within retinal ganglion cells

变异-基因映射分析表明,ARHGEF12 是视网膜神经节细胞内发挥作用的主要开角型青光眼效应基因。

Vrathasha, Vrathasha; Pahl, Matthew C; Pippin, James A; Nikonov, Sergei; He, Jie; Halimitabrizi, Mina; Moksha, Laxmi; Salowe, Rebecca; Edziah, Amy-Ann; Bradford, Yuki; Zhu, Yan; Gudiseva, Harini V; Chavali, Venkata R M; Lopes da Costa, Bruna; Berry, Anne Marie; Quinn, Peter M J; Cui, Qi N; Miller-Ellis, Eydie; Sankar, Prithvi S; Ross, Ahmara G; Addis, Victoria; Verma, Shefali S; Wells, Andrew D; Grant, Struan F A; O'Brien, Joan M

Large-scale multiomic analysis identifies non-coding somatic driver mutations and nominates ZFP36L2 as a driver gene for pancreatic ductal adenocarcinoma

大规模多组学分析鉴定出非编码体细胞驱动突变,并将ZFP36L2确定为胰腺导管腺癌的驱动基因。

Zhong, Jun; O'Brien, Aidan; Patel, Minal B; Eiser, Daina; Mobaraki, Michael; Collins, Irene; Wang, Li; Guo, Konnie; TruongVo, ThucNhi; Jermusyk, Ashley; Das, Sudipto; O'Neill, Maura; Dill, Courtney D; Wells, Andrew D; Leonard, Michelle E; Pippin, James A; Grant, Struan F A; Zhang, Tongwu; Andresson, Thorkell; Connelly, Katelyn E; Shi, Jianxin; Arda, H Efsun; Hoskins, Jason W; Amundadottir, Laufey T

The Alzheimer's Cell Atlas: A comprehensive brain single‐cell transcriptomic atlas using a generative AI foundation model

阿尔茨海默病细胞图谱:基于生成式人工智能基础模型的综合性脑单细胞转录组图谱

Trang, Khanh B; Sharma, Prabhat; Cook, Laura; Mount, Zachary; Thomas, Rajan M; Kulkarni, Nikhil N; Cabrera, Emylette Cruz; Rachimi, Suzanna; Pahl, Matthew C; Pippin, James A; Su, Chun; Kaestner, Klaus H; O'Brien, Joan M; Wagley, Yadav; Hankenson, Kurt D; Jermusyk, Ashley; Hoskins, Jason W; Amundadottir, Laufey T; Xu, Mai; Brown, Kevin M; Anderson, Stewart A; Yang, Wenli; Titchenell, Paul M; Seale, Patrick; Zemel, Babette S; Chesi, Alessandra; Romberg, Neil; Levings, Megan K; Grant, Struan F A; Wells, Andrew D; Xu, Jielin; Zhou, Yadi; Lorincz‐Comi, Noah J; Dou, Lijun; Hou, Yuan; Qiu, Yunguang; Pieper, Andrew A; Cheng, Feixiong

GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.

GWAS 信息数据整合和非编码 CRISPRi 筛选揭示骨矿物质密度的遗传病因。

Conery Mitchell, Pippin James A, Wagley Yadav, Trang Khanh, Pahl Matthew C, Villani David A, Favazzo Lacey J, Ackert-Bicknell Cheryl L, Zuscik Michael J, Katsevich Eugene, Wells Andrew D, Zemel Babette S, Voight Benjamin F, Hankenson Kurt D, Chesi Alessandra, Grant Struan F A

Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets.

通过绘制黑色素瘤易感基因位点的染色质相互作用图谱,可以发现远端顺式调控基因靶点

Thakur Rohit, Xu Mai, Sowards Hayley, Yon Joshuah, Jessop Lea, Myers Timothy, Zhang Tongwu, Chari Raj, Long Erping, Rehling Thomas, Hennessey Rebecca, Funderburk Karen, Yin Jinhu, Machiela Mitchell J, Johnson Matthew E, Wells Andrew D, Chesi Alessandra, Grant Struan F A, Iles Mark M, Landi Maria Teresa, Law Matthew H, Choi Jiyeon, Brown Kevin M

3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity

跨越50多种不同细胞类型的三维基因组特征揭示了儿童肥胖症的基因组结构。

Trang, Khanh B; Pahl, Matthew C; Pippin, James A; Su, Chun; Littleton, Sheridan H; Sharma, Prabhat; Kulkarni, Nikhil N; Ghanem, Louis R; Terry, Natalie A; O'Brien, Joan M; Wagley, Yadav; Hankenson, Kurt D; Jermusyk, Ashley; Hoskins, Jason; Amundadottir, Laufey T; Xu, Mai; Brown, Kevin; Anderson, Stewart; Yang, Wenli; Titchenell, Paul; Seale, Patrick; Kaestner, Klaus H; Cook, Laura; Levings, Megan; Zemel, Babette S; Chesi, Alessandra; Wells, Andrew D; Grant, Struan F A

Shared and unique 3D genomic features of substance use disorders across multiple cell types

多种细胞类型中物质使用障碍的共有和独特的 3D 基因组特征

Trang, Khanh B; Chesi, Alessandra; Toikumo, Sylvanus; Pippin, James A; Pahl, Matthew C; O'Brien, Joan M; Amundadottir, Laufey T; Brown, Kevin M; Yang, Wenli; Welles, Jaclyn; Santoleri, Dominic; Titchenell, Paul M; Seale, Patrick; Zemel, Babette S; Wagley, Yadav; Hankenson, Kurt D; Kaestner, Klaus H; Anderson, Stewart A; Kayser, Matthew S; Wells, Andrew D; Kranzler, Henry R; Kember, Rachel L; Grant, Struan F A

Trans-ancestry genome-wide association meta-analysis of gallstone disease

跨种族全基因组关联荟萃分析胆结石病

Lim, Junghyun; Vujkovic, Marijana; Levin, Michael G; Lorenz, Kim; Voight, Benjamin F; Zhang, David Y; Dudek, Max F; Pahl, Matthew C; Pippin, James A; Su, Chun; Manduchi, Elisabetta; Wells, Andrew D; Grant, Struan F A; Abramowitz, Sarah; Damrauer, Scott M; Mukherjee, Samiran; Yang, Guoyi; Kaplan, David E; Rader, Daniel J

The common variable immunodeficiency IgM repertoire narrowly recognizes erythrocyte and platelet glycans.

常见变异型免疫缺陷 IgM 抗体库仅能识别红细胞和血小板聚糖

Le Coz Carole, Trofa Melissa, Butler Dorothy L, Yoon Samuel, Tian Tian, Reid Whitney, Cruz Cabrera Emylette, Knox Ainsley V C, Khanna Caroline, Sullivan Kathleen E, Heimall Jennifer, Takach Patricia, Fadugba Olajumoke O, Lawrence Monica, Jyonouchi Soma, Hakonarson Hakon, Wells Andrew D, Handler Steven, Zur Karen B, Pillai Vinodh, Gildersleeve Jeffrey C, Romberg Neil