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

Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms

年轻和家族性骨髓增生性肿瘤中常见且具有临床意义的种系DNA修复基因变异

Meyer, Robert; Rodriguez, Maria Jimena; Caduc, Madeline; Kricheldorf, Kim; Begemann, Matthias; Kraft, Florian; Spier, Isabel; Dey, Daniela; Güzel, Nergis; Becker, Kerstin; Baumeister, Julian; S de Toledo, Marcelo A; Isfort, Susanne; Germing, Ulrich; Aretz, Stefan; Brümmendorf, Tim H; Kurth, Ingo; Elbracht, Miriam; Teichmann, Lino L; Koschmieder, Steffen

Recommended long COVID outcome measures and their implications for clinical trial design, with a focus on post-exertional malaise

推荐的长期新冠结局指标及其对临床试验设计的影响,重点关注劳累后不适

Soares, Letícia; Davis, Hannah; Spier, Ezra; Walker, Tiffany; Davenport, Todd; Putrino, David; Peluso, Michael; Vogel, Julia Moore

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants

对疑似患有遗传性癌症的未确诊欧洲患者进行基因组测序:诊断率和候选致病变异的鉴定

Martins, Nelson; Terradas, Mariona; Garcia-Pelaez, José; Sommer, Anna K; Demidov, German; Matalonga, Leslie; Ramos-Muntada, Mireia; Te Paske, Iris B A W; Spier, Isabel; Mensenkamp, Arjen; Schuurs-Hoeijmakers, Janneke; Gullo, Irene; São José, Celina; Pedro, Ana Maria; Gouveia Silva, Raquel; Sousa, Ana Berta; Amoroso Canão, Pedro; Fernandes, Susana; Garrido, Luzia; Dupont, Juliette; Maia, Sofia; Sousa, Gabriela; Irmejs, Arvids; Barili, Valeria; Blatnik, Ana; Rofes, Paula; Brunet, Joan; Capellá, Gabriel; Laurie, Steven; Lázaro, Conxi; Hoogerbrugge, Nicoline; de Voer, Richarda M; Aretz, Stefan; Oliveira, Carla; Valle, Laura

Genomic diversity and host-specificity in Corynebacterium pseudotuberculosis using comparative population genomics

利用比较群体基因组学研究假结核棒状杆菌的基因组多样性和宿主特异性

Profeta, Rodrigo; Schlesener, Cory L; Shaw, Claire A; Busch, Roselle C; Heller, Meera C; Spier, Sharon; Wu, Jing; Welch, Shannara; Viana, Marcus Vinicius C; Barroso, Fernanda A L; Brenig, Bertram; Azevedo, Vasco; Weimer, Bart C

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma

MSH2、MSH6、MLH1 和 PMS2 免疫组化作为儿童高级别胶质瘤 DNA 错配修复缺陷综合征的高灵敏度筛查方法

Friker, Lea L; Perwein, Thomas; Waha, Andreas; Dörner, Evelyn; Klein, Rebecca; Blattner-Johnson, Mirjam; Layer, Julian P; Sturm, Dominik; Nussbaumer, Gunther; Kwiecien, Robert; Spier, Isabel; Aretz, Stefan; Kerl, Kornelius; Hennewig, Ulrike; Rohde, Marius; Karow, Axel; Bluemcke, Ingmar; Schmitz, Ann Kristin; Reinhard, Harald; Hernáiz Driever, Pablo; Wendt, Susanne; Weiser, Annette; Guerreiro Stücklin, Ana S; Gerber, Nicolas U; von Bueren, André O; Khurana, Claudia; Jorch, Norbert; Wiese, Maria; Kratz, Christian P; Eyrich, Matthias; Karremann, Michael; Herrlinger, Ulrich; Hölzel, Michael; Jones, David T W; Hoffmann, Marion; Pietsch, Torsten; Gielen, Gerrit H; Kramm, Christof M

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Such, Jean-Baptiste; Mansard, Sandrine; Zlobecki, Mélissa; Chevenet, Carole; Lambert, Céline; Bachelerie, Marie; Rouanet, Jacques; Racz, Lara; Pasternack‐Ziach, Sandra; Spier, Isabel; Forchhammer, Stephan; Rehkämper, Claudia; Kind, Peter; Reifenberger, Julia; Redler, Silke; Brandlmaier, Matthias; Koelblinger, Peter; Constantinou, Andria; Prendke, Mona; Franz, Agathe; Hillmann, Kathrin; Blume‐Peytavi, Ulrike; Cramer, Neda; Mohr, Johannes; Schön, Michael P; Mössner, Rotraut

Externally validated digital decision support tool for time-to-osteoradionecrosis risk-stratification using right-censored multi-institutional observational cohorts

经外部验证的用于骨放射性坏死时间风险分层的数字决策支持工具,采用右删失多中心观察队列

Humbert-Vidan, Laia; Kamel, Serageldin; Wentzel, Andrew; Kaffey, Zaphanlene; Abdelaal, Moamen; Spier, Kyle B; West, Natalie A; Marai, G Elisabeta; Canahuate, Guadalupe; Zhang, Xinhua; Chen, Melissa M; Wahid, Kareem A; Rigert, Jillian; Hosseinian, Seyedmohammadhossein; Schaefer, Andrew J; Brock, Kristy K; Chambers, Mark; Otun, Adegbenga O; Aponte-Wesson, Ruth; Patel, Vinod; Hope, Andrew; Phan, Jack; Garden, Adam S; Frank, Steven J; Morrison, William H; Spiotto, Michael T; Rosenthal, David; Lee, Anna; He, Renjie; Naser, Mohamed A; Watson, Erin; Hutcheson, Katherine A; Mohamed, Abdallah S R; Sandulache, Vlad C; van Dijk, Lisanne V; Moreno, Amy C; Urbano, Teresa Guerrero; Fuller, Clifton D; Lai, Stephen Y

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

长读长基因组和RNA测序解析了APC基因中致病性内含子生殖系LINE-1插入突变。

Alexandra A Baumann # ,Lisanne I Knol # ,Marie Arlt ,Tim Hutschenreiter ,Anja Richter ,Thomas J Widmann ,Marcus Franke ,Karl Hackmann ,Sylke Winkler ,Daniela Richter ,Isabel Spier ,Stefan Aretz ,Daniela Aust ,Joseph Porrmann ,Doreen William ,Evelin Schröck ,Hanno Glimm ,Arne Jahn

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Hollstein, Moritz M; Traidl, Stephan; Werfel, Thomas; Schmitt, Jochen; Manzo Margiotta, Flavia; Dini, Valentina; Calabrese, Laura; Lazzeri, Laura; Conte, Sofia Lo; Magliulo, Manfredi; Montesi, Giulio; Pescitelli, Leonardo; Milanesi, Nicola; Mazzatenta, Carlo; Antiga, Emiliano; Rubegni, Pietro; Gola, Massimo; Romanelli, Marco; Cartocci, Alessandra; Racz, Lara; Pasternack‐Ziach, Sandra; Spier, Isabel; Forchhammer, Stephan; Rehkämper, Claudia; Kind, Peter; Reifenberger, Julia; Redler, Silke; Koumprentziotis, Ioannis‐Alexios; Niforou, Aikaterini; Kaliampou, Stella; Tsimpidakis, Antonios; Gerochristou, Maria; Marinos, Leonidas; Stratigos, Alexander; Papadavid, Evangelia; Nikolaou, Vasiliki; Akuffo‐Addo, Edgar; Rahman, Samia; Ramsay, Kaitlyn; Piguet, Vincent; Joseph, Marissa; Brandlmaier, Matthias; Koelblinger, Peter; Constantinou, Andria; Prendke, Mona; Franz, Agathe; Hillmann, Kathrin; Blume‐Peytavi, Ulrike