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

Small intestinal neuroendocrine tumors lack early genomic drivers, acquire DNA repair defects and harbor hallmarks of low REST expression.

小肠神经内分泌肿瘤缺乏早期基因组驱动因素,获得 DNA 修复缺陷,并具有 REST 表达低的特征

Bolduan Felix, Müller-Bötticher Niklas, Debnath Olivia, Eichhorn Ines, Giesecke Yvonne, Wetzel Alexandra, Sahay Shashwat, Zemojtel Tomasz, Jaeger Marten, Ungethuem Ute, Roderburg Christoph, Kunze Catarina Alisa, Lehmann Annika, Horst David, Tacke Frank, Eils Roland, Wiedenmann Bertram, Sigal Michael, Ishaque Naveed

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders

成人低骨量疾病常规骨骼评估中的基因诊断

Oheim, Ralf; Tsourdi, Elena; Seefried, Lothar; Beller, Gisela; Schubach, Max; Vettorazzi, Eik; Stürznickel, Julian; Rolvien, Tim; Ehmke, Nadja; Delsmann, Alena; Genest, Franca; Krüger, Ulrike; Zemojtel, Tomasz; Barvencik, Florian; Schinke, Thorsten; Jakob, Franz; Hofbauer, Lorenz C; Mundlos, Stefan; Kornak, Uwe

Impaired humoral and cellular immunity after SARS-CoV-2 BNT162b2 (tozinameran) prime-boost vaccination in kidney transplant recipients

肾移植受者接种SARS-CoV-2 BNT162b2(托齐纳梅兰)初免-加强疫苗后体液免疫和细胞免疫受损

Sattler, Arne; Schrezenmeier, Eva; Weber, Ulrike A; Potekhin, Alexander; Bachmann, Friederike; Straub-Hohenbleicher, Henriette; Budde, Klemens; Storz, Elena; Proß, Vanessa; Bergmann, Yasmin; Thole, Linda Ml; Tizian, Caroline; Hölsken, Oliver; Diefenbach, Andreas; Schrezenmeier, Hubert; Jahrsdörfer, Bernd; Zemojtel, Tomasz; Jechow, Katharina; Conrad, Christian; Lukassen, Sören; Stauch, Diana; Lachmann, Nils; Choi, Mira; Halleck, Fabian; Kotsch, Katja

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report

CLN8 基因突变导致神经元蜡样脂褐质沉积症表型连续谱——文献综述及病例报告

Badura-Stronka, Magdalena; Winczewska-Wiktor, Anna; Pietrzak, Anna; Hirschfeld, Adam Sebastian; Zemojtel, Tomasz; Wołyńska, Katarzyna; Bednarek-Rajewska, Katarzyna; Seget-Dubaniewicz, Monika; Matheisel, Agnieszka; Latos-Bielenska, Anna; Steinborn, Barbara

Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA

通过对游离DNA进行拷贝数和靶向突变谱分析相结合的方法,对ALK阳性肺癌进行纵向治疗监测。

Dietz, Steffen; Christopoulos, Petros; Yuan, Zhao; Angeles, Arlou Kristina; Gu, Lisa; Volckmar, Anna-Lena; Ogrodnik, Simon J; Janke, Florian; Fratte, Chiara Dalle; Zemojtel, Tomasz; Schneider, Marc A; Kazdal, Daniel; Endris, Volker; Meister, Michael; Muley, Thomas; Cecchin, Erika; Reck, Martin; Schlesner, Matthias; Thomas, Michael; Stenzinger, Albrecht; Sültmann, Holger

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)

SEMA3A 和 IGSF10 是导致垂体联合激素缺乏症 (CPHD) 的新因素

Budny, Bartlomiej; Zemojtel, Tomasz; Kaluzna, Malgorzata; Gut, Pawel; Niedziela, Marek; Obara-Moszynska, Monika; Rabska-Pietrzak, Barbara; Karmelita-Katulska, Katarzyna; Stajgis, Marek; Ambroziak, Urszula; Bednarczuk, Tomasz; Wrotkowska, Elzbieta; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Ruchala, Marek; Ziemnicka, Katarzyna

Detection of TP53 Mutations in Tissue or Liquid Rebiopsies at Progression Identifies ALK+ Lung Cancer Patients with Poor Survival

在疾病进展期进行组织或液体活检时检测TP53突变,可以识别出生存期较差的ALK阳性肺癌患者。

Christopoulos, Petros; Dietz, Steffen; Kirchner, Martina; Volckmar, Anna-Lena; Endris, Volker; Neumann, Olaf; Ogrodnik, Simon; Heussel, Claus-Peter; Herth, Felix J; Eichhorn, Martin; Meister, Michael; Budczies, Jan; Allgäuer, Michael; Leichsenring, Jonas; Zemojtel, Tomasz; Bischoff, Helge; Schirmacher, Peter; Thomas, Michael; Sültmann, Holger; Stenzinger, Albrecht

Serial liquid biopsies for detection of treatment failure and profiling of resistance mechanisms in KLC1-ALK-rearranged lung cancer

对KLC1-ALK重排肺癌进行系列液体活检,以检测治疗失败并分析耐药机制。

Dietz, Steffen; Christopoulos, Petros; Gu, Lisa; Volckmar, Anna-Lena; Endris, Volker; Yuan, Zhao; Ogrodnik, Simon J; Zemojtel, Tomasz; Heussel, Claus-Peter; Schneider, Marc A; Meister, Michael; Muley, Thomas; Reck, Martin; Schlesner, Matthias; Thomas, Michael; Stenzinger, Albrecht; Sültmann, Holger

The Human Phenotype Ontology in 2017

2017 年人类表型本体论

Köhler, Sebastian; Vasilevsky, Nicole A; Engelstad, Mark; Foster, Erin; McMurry, Julie; Aymé, Ségolène; Baynam, Gareth; Bello, Susan M; Boerkoel, Cornelius F; Boycott, Kym M; Brudno, Michael; Buske, Orion J; Chinnery, Patrick F; Cipriani, Valentina; Connell, Laureen E; Dawkins, Hugh J S; DeMare, Laura E; Devereau, Andrew D; de Vries, Bert B A; Firth, Helen V; Freson, Kathleen; Greene, Daniel; Hamosh, Ada; Helbig, Ingo; Hum, Courtney; Jähn, Johanna A; James, Roger; Krause, Roland; F Laulederkind, Stanley J; Lochmüller, Hanns; Lyon, Gholson J; Ogishima, Soichi; Olry, Annie; Ouwehand, Willem H; Pontikos, Nikolas; Rath, Ana; Schaefer, Franz; Scott, Richard H; Segal, Michael; Sergouniotis, Panagiotis I; Sever, Richard; Smith, Cynthia L; Straub, Volker; Thompson, Rachel; Turner, Catherine; Turro, Ernest; Veltman, Marijcke W M; Vulliamy, Tom; Yu, Jing; von Ziegenweidt, Julie; Zankl, Andreas; Züchner, Stephan; Zemojtel, Tomasz; Jacobsen, Julius O B; Groza, Tudor; Smedley, Damian; Mungall, Christopher J; Haendel, Melissa; Robinson, Peter N

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes

L1Base 2:更多具有逆转录转座活性的LINE-1序列,更多哺乳动物基因组

Penzkofer, Tobias; Jäger, Marten; Figlerowicz, Marek; Badge, Richard; Mundlos, Stefan; Robinson, Peter N; Zemojtel, Tomasz