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

Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve

全基因组和转录组分析鉴定出多个候选基因,并揭示了二叶式主动脉瓣中显著的多基因贡献

Thériault, Sébastien; Holdcraft, Jacob A; Sharipova, Dinara; Faucherre, Adèle; Debiec, Radoslaw M; Peloso, Gina M; Al-Kassou, Baravan; Aranki, Sary; Ashikhmina Swan, Elena; Ballotta, Andrea; Bellino, Michele; Björck, Hanna M; Boureau, Anne Sophie; Braund, Peter S; Corriveau, François; Dagenais, François; Folkersen, Lasse; Forte, Amalia; Francke, Michael D; Frigiola, Alessandro; Gorbatov, Svetlana; Guo, Dongchuan; Habchi, Karam M; Heydarpour, Mahyar; Isselbacher, Eric M; Jopling, Chris; Laporte, Fabien; Le Scouarnec, Solena; Li, Zhonglin; Lichtner, Peter; Maj, Carlo; Manikpurage, Hasanga D; Nelson, Christopher P; Nguyen, Thy B; Norris, Russell A; Ong, Chin Siang; Pibarot, Philippe; Roychowdhury, Tanmoy; Sarubbi, Berardo; Simonet, Floriane; Sundt, Thoralf; Surakka, Ida; Tessler, Idit; Willer, Cristen J; Wittmann, Susanne; Yang, Bo; Berezovets, Igor; Doppler, Stefanie A; Dreßen, Martina; Knoll, Katharina; Puehler, Thomas; Schunkert, Heribert; Avierinos, Jean-François; Bissell, Malenka M; Bolger, Aidan P; Bossé, Yohan; Bossone, Eduardo; Brion, María; Citro, Rodolfo; de Vincentiis, Carlo; Deeb, G Michael; Della Corte, Alessandro; Dina, Christian; Durst, Ronen; Ensminger, Stephan; Eriksson, Per; Evangelista, Arturo; Franco-Cereceda, Anders; Gilon, Dan; Giusti, Betti; Hetherington, Simon L; Huggins, Gordon S; Krane, Markus; Le Tourneau, Thierry; Limongelli, Giuseppe; Mathieu, Patrick; Messika-Zeitoun, David; Michelena, Hector I; Milewicz, Dianna; Muehlschlegel, Jochen D; Murdock, David R; Nickenig, Georg; Nistri, Stefano; Nöthen, Markus M; Pluchinotta, Francesca; Prakash, Siddharth K; Samani, Nilesh J; Schott, Jean-Jacques; Webb, Tom R; Zaffran, Stéphane; Abdelilah-Seyfried, Salim; Eagle, Kim; Schumacher, Johannes; Trenkwalder, Teresa; Body, Simon C

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.

主动脉狭窄的基因组学和转录组学分析有助于发现治疗靶点和预测疾病。

Small Aeron M, Yang Ta-Yu, Itoh Shinsuke, Thériault Sébastien, Dufresne Line, Kurosawa Ryo, Komuro Issei, Matsuda Koichi, Vy Ha My T, Farber-Eger Eric H, Shaffer Lauren Lee, Boulier Kristin M, Corey Kristin M, Ramaker Megan E, Laporte Fabien, Schott Jean-Jacques, Le Scouarnec Solena, Singh Sasha A, Sonawane Abhijeet R, Smith Harry A, Rafaels Nicholas, Ghouse Jonas, Raja Anna A, Ostrowski Sisse R, Sørensen Erik, Mikkelsen Christina, Pedersen Ole B, Erikstrup Christian, Ullum Henrik, Sveinbjornsson Gardar, Gudbjartsson Daniel F, Abner Erik, Lee Jiwoo, Ganna Andrea, Nowak-Göttl Ulrike, Finer Sarah, Schumacher Johannes, Maj Carlo, Al-Kassou Baravan, Nickenig Georg, Trenkwalder Teresa, Dreβen Martina, Krane Markus, Nöthen Markus M, Moksnes Marta R, Brumpton Ben M, Knight Stacey, Knowlton Kirk U, Nadauld Lincoln, Debiec Radek, Musameh Muntaser D, Braund Peter S, Nelson Christopher P, Czuba Tomasz, Melander Olle, Selvaraj Margaret Sunitha, Koyama Satoshi, Bhukar Rohan, Ruan Yunfeng, Ljungberg Johan, Damrauer Scott M, Levin Michael G, Franke Andre, Berger Klaus, Ruff Christian T, Melloni Giorgio E M, Kamanu Frederick K, Ito Kaoru, Do Ron, Loos Ruth J F, Schunkert Heribert, Wells Quinn S, Shah Svati H, Le Tourneau Thierry, Messika-Zeitoun David, Gignoux Christopher, Bundgaard Henning, Larsson Susanna C, Michaëlsson Karl, Holm Hilma, Helgadottir Anna, Esko Tonu, van Heel David A, Mathieu Patrick, Samani Nilesh J, Smith J Gustav, Söderberg Stefan, Rader Daniel J, Marston Nicholas A, Sabatine Marc S, Pasaniuc Bogdan, Cho Kelly, Wilson Peter W F, O'Donnell Christopher J, Stefansson Kari, Bossé Yohan, Aikawa Elena, Engert James C, Peloso Gina M, Natarajan Pradeep, Thanassoulis George

Polygenic Risk Scores of COPD Predict Lung Function Decline and Early COPD: Results from COSYCONET

COPD多基因风险评分可预测肺功能下降和早期COPD:来自COSYCONET的研究结果

Pott, Hendrik; Martin, Roman; Köbbe, Laura; Maj, Carlo; Abdo, Mustafa; Hinz, Lennard; Klinkhammer, Hannah; Bertrams, Wilhelm; Mattutat, Johann; Kutzinski, Max; Weckler, Barbara C; Alter, Peter; Biertz, Frank; Speicher, Tim; Jung, Anna Lena; Laakmann, Katrin; Lehmann, Mareike; Mayr, Andreas; Vogelmeier, Claus F; Heider, Dominik; Schumacher, Johannes; Schmeck, Bernd

Detecting gene-environment interactions to guide personalized intervention: Boosting distributional regression for polygenic scores

检测基因-环境相互作用以指导个性化干预:增强多基因评分的分布回归

Wu, Qiong; Klinkhammer, Hannah; Kunwar, Kiran; Staerk, Christian; Maj, Carlo; Mayr, Andreas

Investigations on transferability of polygenic risk scores depending on demography and dominance coefficients

基于人口统计学和显性系数的多基因风险评分可转移性研究

Fohler, Leonie; Latifi, Edita; Mayr, Andreas; Maj, Carlo; Staerk, Christian; Klinkhammer, Hannah; Krawitz, Peter M

Multi-organ single-cell analysis of preferential expression of CAKUT genes

CAKUT基因优先表达的多器官单细胞分析

Pflugfelder, Mara; Eberts, Antonia; Koch, Vera; Martynov, Illya; Maj, Carlo; Seitz, Guido; Schumacher, Johannes; Vahdad, Mohammad Reza; Dasmeh, Pouria

First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia

首个全基因组关联研究揭示特发性贲门失弛症的免疫介导病因

Grover, Sandeep; Gockel, Ines; Latiano, Anna; Mokrowiecka, Anna; Dasmeh, Pouria; Wouters, Mira M; Vackova, Zuzana; Haas, Stephan L; Triantafyllou, Tania; Kreuser, Nicole; Trautmann, Jessica; Niebisch, Stefan; Hess, Timo; Thieme, Rene; Bigge, Jessica; Louis, Hubert; Quertinmont, Eric; Meirhaeghe, Aline; Muntaner, Manon; Amouyel, Philippe; Gourcerol, Guillaume; Bruley des Varannes, Stanislas; Mion, Francois; Vieth, Michael; Scarmeas, Nikolaos; Palmieri, Orazio; Tavano, Francesca; De Giorgio, Roberto; Galimberti, Daniela; Arighi, Andrea; Arosio, Beatrice; Bruno, Marco; Wasielica-Berger, Justyna; Gawron-Kiszka, Magdalena; Janiak, Maria; Siepsiak, Magdalena; Adrych, Krystian; Marek, Tomasz; Dabrowski, Andrzej; Majewski, Marek; Gietka, Piotr; Gonciarz, Maciej; Pérez de la Serna, Julio; Martínez, Laisy Zacarías; Giedraitis, Vilmantas; Kilander, Lena; Fratiglioni, Laura; Real, Luis Miguel; Spicak, Julius; Tack, Jan; Heilmann-Heimbach, Stefanie; Nöthen, Markus; Ingelsson, Martin; Graff, Caroline; Ruiz, Agustín; Lambert, Jean-Charles; Ramirez, Alfredo; Eckardt, Alexander J; Müller, Michaela; Knapp, Michael; Wissinowski, Thaddäus T; Keller, Jutta; Bruns, Christiane Josephine; Gerges, Christian; Neuhaus, Horst; Rösch, Thomas; Siegmund, Britta; Schumacher, Brigitte; Venerito, Marino; Ruiz de León, Antonio; Rosati, Riccardo; Annese, Vito; Fumagalli, Uberto; Laghi, Luigi; Urcelay, Elena; Vavasseur, Fabienne; Roman, Sabine; Zhou, Pinghong; Li, Quanlin; Liu, Zuqiang; Rahden, Burkhard H A von; Theodorou, Dimitris; Malecka-Wojciesko, Ewa; Maj, Carlo; Vigo, Ana G; Martinek, Jan; Boeckxstaens, Guy; Schumacher, Johannes

Single-cell analysis of Barrett's esophagus and carcinoma reveals cell types conferring risk via genetic predisposition.

对巴雷特食管和癌的单细胞分析揭示了通过遗传易感性赋予风险的细胞类型。

Wenzel Marten C, Dasmeh Pouria, Plum Patrick S, Giel Ann-Sophie, Hoppe Sascha, Franitza Marek, Jonas Christoph, Thieme René, Zhao Yue, Heider Dominik, Palles Claire, Fitzgerald Rebecca Claire, Bruns Christiane J, Buettner Reinhard, Quaas Alexander, Gockel Ines, Maj Carlo, Chon Seung-Hun, Schumacher Johannes, Hillmer Axel M

Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background

GBA1基因携带者患帕金森病的概率取决于变异的严重程度和多基因背景。

Hassanin, Emadeldin; Landoulsi, Zied; Pachchek, Sinthuja; Krawitz, Peter; Maj, Carlo; Krüger, Rejko; May, Patrick; Bobbili, Dheeraj Reddy

Mendelian randomisation analysis to discover plasma metabolites mediating the effect of obesity on cancer risk

利用孟德尔随机化分析发现介导肥胖对癌症风险影响的血浆代谢物

Yates, Thomas; Went, Molly; Mills, Charlie; Law, Philip; Gockel, Ines; Maj, Carlo; Schumacher, Johannes; Palles, Claire; Houlston, Richard