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

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

整合长读长纳米孔测序技术以精确解析肌张力障碍中的基因组变异

Sorrentino, Ugo; Pavlov, Martin; Mirza-Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M; Wagner, Matias; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne; Di Fonzo, Alessio; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra; Tautanova, Raushana; Lösecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael

Healthcare Personnel's Perspectives on the Impacts of Multiple Disasters on the Workforce in Puerto Rico

波多黎各医护人员对多重灾害对劳动力影响的看法

Lopez Mercado, Damaris; Purtle, Jonathan; Rivera-González, Alexandra C; Santiago, Katyana M; González, Angellyn Santos; Chavez, Ligia M; Stimpson, Jim P; Langellier, Brent; Stehr, Mark; Eberth, Jan M; Canino, Glorisa; Ortega, Alexander N

[Sexual boundary violations and sexualized violence-Where do queer young people find information and support?]

【性边界侵犯和性暴力——酷儿青年在哪里可以获得信息和支持?】

Stehr, Jasmin; Wazlawik, Martin

Deciphering response dynamics and treatment resistance from circulating tumor DNA after CAR T-cells in multiple myeloma

通过 CAR-T 细胞治疗多发性骨髓瘤后循环肿瘤 DNA 解析反应动力学和治疗耐药性

Hosoya, Hitomi; Carleton, Mia; Tanaka, Kailee; Sworder, Brian; Syal, Shriya; Sahaf, Bita; Maltos, Alisha M; Silva, Oscar; Stehr, Henning; Hovanky, Vanna; Duran, George; Zhang, Tian; Liedtke, Michaela; Arai, Sally; Iberri, David; Miklos, David; Khodadoust, Michael S; Sidana, Surbhi; Kurtz, David M

Real time machine learning prediction of next generation sequencing test results in live clinical settings

在实时临床环境中利用机器学习技术实时预测下一代测序检测结果

Kim, Grace Y E; Schwede, Matthew; Corbin, Conor K; Fouladvand, Sajjad; Brar, Rondeep; Iberri, David; Shomali, William; Oak, Jean S; Gratzinger, Dita; Stehr, Henning; Chen, Jonathan H

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

A Concordance Study among 26 NGS Laboratories Participating in the NCI Molecular Analysis for Therapy Choice Clinical Trial

参与NCI分子分析治疗选择临床试验的26家NGS实验室的一致性研究

Zane, Linda K; Yee, Laura M; Chang, Ting-Chia; Sklar, Jeffrey; Yang, Guangxiao; Wen, Jia Di; Li, Peining; Harrington, Robin; Sims, David J; Harper, Kneshay; Trent, Jeffrey M; LoBello, Janine R; Szelinger, Szabolcs; Benson, Kasey; Zeng, Jia; Poorman, Kelsey; Xu, Danbin; Frampton, Garrett M; Pavlick, Dean C; Miller, Vincent A; Tandon, Bevan; Swat, Wojciech; Weiss, Lawrence; Funari, Vincent Anthony; Conroy, Jeffrey M; Prescott, James L; Chandra, Pranil K; Ma, Charles; Champion, Kristen J; Baschkopf, Gregory X; Fesko, Yuri A; Freitas, Tracey Allen K; Tomlins, Scott A; Hovelson, Daniel H; White, Kevin; Sorrells, Shelly; Tell, Robert; Beaubier, Nike; King, David; Li, Lei; Kelly, Kevin; Uvalic, Jasmina; Meyers, Bridgette; Kolhe, Ravindra; Lindeman, Neal I; Baltay, Michele; Sholl, Lynette M; Lopategui, Jean; Vail, Eric; Zhang, Wenjuan; Telatar, Milhan; Afkhami, Michelle; Hsiao, Susan J; Mansukhani, Mahesh M; Adams, Emily; Jiang, LiQun; Aldape, Kenneth D; Raffeld, Mark; Xi, Liqiang; Stehr, Henning; Segal, Jeremy P; Aisner, Dara L; Davies, Kurtis D; Brown, Noah A; Livingston, Robert J; Konnick, Eric Q; Song, Wei; Solomon, James P; Walther, Zenta; McShane, Lisa M; Harris, Lyndsay N; Chen, Alice P; Tsongalis, Gregory J; Hamilton, Stanley R; Flaherty, Keith T; O'Dwyer, Peter J; Conley, Barbara A; Patton, David R; Iafrate, A John; Williams, P Mickey; Tricoli, James V; Karlovich, Chris

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

MDM2 inhibition is associated with the emergence of TP53-altered clonal hematopoiesis

MDM2抑制与TP53改变的克隆性造血的出现有关

Khanna, Vishesh; Eslami, Gohar; Reyes, Rochelle; Diep, Robert; Fernandez-Pol, Sebastian; Stehr, Henning; Suarez, Carlos Jose; Pinto, Harlan; Ford, James M; Zhang, Tian Yi; Chen, Christopher T

Effect of Cardiac Arrest Center Protocol Implementation on Survival After Nontraumatic Out-of-Hospital Cardiac Arrest

心脏骤停中心方案实施对非创伤性院外心脏骤停患者生存率的影响

Stachel, Georg; Ruft, Lisa; Hertenberger, Niklas; Eichner, Gerrit; Lenk, Karsten; Michalski, Dominik; Classen, Joseph; Petros, Sirak; Stehr, Sebastian; Laufs, Ulrich; Gries, André