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

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis

基于整合组学数据分析的常见癫痫遗传风险因素识别

Mushunuri, Ashwini; Adesoji, Oluyomi; Krause, Roland; May, Patrick; Lerche, Holger; Becker, Albert; Grimm, Daniela; Nothnagel, Michael; Schulz, Herbert

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

保守的错义变异致病性和旁系同源基因的相关表型

Brünger, Tobias; Ivaniuk, Alina; Pérez-Palma, Eduardo; Montanucci, Ludovica; Cohen, Stacey; Smith, Lacey; Parthasarathy, Shridhar; Helbig, Ingo; Nothnagel, Michael; May, Patrick; Lal, Dennis

A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease

全基因组关联荟萃分析表明,Hedgehog 和 Notch 信号通路与杜普伊特伦挛缩症有关。

Riesmeijer, Sophie A; Kamali, Zoha; Ng, Michael; Drichel, Dmitriy; Piersma, Bram; Becker, Kerstin; Layton, Thomas B; Nanchahal, Jagdeep; Nothnagel, Michael; Vaez, Ahmad; Hennies, Hans Christian; Werker, Paul M N; Furniss, Dominic; Nolte, Ilja M

Systematic assessment of COVID-19 host genetics using whole genome sequencing data

利用全基因组测序数据对 COVID-19 宿主遗传学进行系统评估

Schmidt, Axel; Casadei, Nicolas; Brand, Fabian; Demidov, German; Vojgani, Elaheh; Abolhassani, Ayda; Aldisi, Rana; Butler-Laporte, Guillaume; Alawathurage, T Madhusankha; Augustin, Max; Bals, Robert; Bellinghausen, Carla; Berger, Marc Moritz; Bitzer, Michael; Bode, Christian; Boos, Jannik; Brenner, Thorsten; Cornely, Oliver A; Eggermann, Thomas; Erber, Johanna; Feldt, Torsten; Fuchsberger, Christian; Gagneur, Julien; Göpel, Siri; Haack, Tobias; Häberle, Helene; Hanses, Frank; Heggemann, Julia; Hehr, Ute; Hellmuth, Johannes C; Herr, Christian; Hinney, Anke; Hoffmann, Per; Illig, Thomas; Jensen, Björn-Erik Ole; Keitel, Verena; Kim-Hellmuth, Sarah; Koehler, Philipp; Kurth, Ingo; Lanz, Anna-Lisa; Latz, Eicke; Lehmann, Clara; Luedde, Tom; Maj, Carlo; Mian, Michael; Miller, Abigail; Muenchhoff, Maximilian; Pink, Isabell; Protzer, Ulrike; Rohn, Hana; Rybniker, Jan; Scaggiante, Federica; Schaffeldt, Anna; Scherer, Clemens; Schieck, Maximilian; Schmidt, Susanne V; Schommers, Philipp; Spinner, Christoph D; Vehreschild, Maria J G T; Velavan, Thirumalaisamy P; Volland, Sonja; Wilfling, Sibylle; Winter, Christof; Richards, J Brent; Heimbach, André; Becker, Kerstin; Ossowski, Stephan; Schultze, Joachim L; Nürnberg, Peter; Nöthen, Markus M; Motameny, Susanne; Nothnagel, Michael; Riess, Olaf; Schulte, Eva C; Ludwig, Kerstin U

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

离子通道的保守模式与变异致病性和临床表型相关

Brünger, Tobias; Pérez-Palma, Eduardo; Montanucci, Ludovica; Nothnagel, Michael; Møller, Rikke S; Schorge, Stephanie; Zuberi, Sameer; Symonds, Joseph; Lemke, Johannes R; Brunklaus, Andreas; Traynelis, Stephen F; May, Patrick; Lal, Dennis

SMapper: visualizing spatial prevalence data of all types, including sparse and incomplete datasets

SMapper:可视化各种类型的空间患病率数据,包括稀疏和不完整的数据集

Khellaf, Lynn; Ralf, Arwin; Nguyen, Khanh Toan; Kayser, Manfred; Nothnagel, Michael

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online

CNV-ClinViewer:在线增强对大拷贝数变异的临床解读

Macnee, Marie; Pérez-Palma, Eduardo; Brünger, Tobias; Klöckner, Chiara; Platzer, Konrad; Stefanski, Arthur; Montanucci, Ludovica; Bayat, Allan; Radtke, Maximilian; Collins, Ryan L; Talkowski, Michael; Blankenberg, Daniel; Møller, Rikke S; Lemke, Johannes R; Nothnagel, Michael; May, Patrick; Lal, Dennis

Correction to: Towards a fine-scale picture of European genetic diversity

更正:迈向欧洲遗传多样性精细化图景

Nothnagel, Michael

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

常见的全身性癫痫和局灶性癫痫的病因是不同的基因集负荷模式。

Koko, Mahmoud; Krause, Roland; Sander, Thomas; Bobbili, Dheeraj Reddy; Nothnagel, Michael; May, Patrick; Lerche, Holger