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

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.

ATM、BRCA2、其他癌症易感基因和新的候选基因的种系变异与有肿瘤家族史或个人史的成年胶质瘤患者的胶质瘤风险有关。

期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-025-02972-6
Brand Frank, Rose Lily S, Akbarzadeh Amir H, Weber Christine A M, Eckert Isabel, Schmidt Gunnar, Auber Bernd, Förster Alisa, Beyer Ulrike, Geffers Robert, Bartels Stephan, Lalk Michael, Polemikos Manolis, Friese Michael, Sabel Michael, Schwenkenbecher Philipp, Kremer Paul, Nabavi Arya, Samii Amir, Lehmann Ulrich, Reifenberger Guido, Krauss Joachim K, Wiese Bettina, Hartmann Christian, Weber Ruthild G
胶质瘤
肿瘤
ATM
BRCA2
发表日期：2026
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Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure

由ABCB4纯合错义变异引起的MDR3功能失活导致肝功能衰竭

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2026.1802238
Heinrich, Sophia; Behrendt, Annika; Sgodda, Malte; Gohlke, Holger; Auber, Bernd; Stalke, Amelie; Hartleben, Björn; Wedemeyer, Heiner; Cantz, Tobias; Taubert, Richard
肝衰竭
发表日期：2026
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Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and PAX2 Loss-of-Function Variants and Implications for Clinical Management

肾脏和泌尿道先天性畸形及PAX2功能缺失变异患者的临床表现及其对临床管理的影响

期刊:Kidney International Reports
影响因子:5.7
doi:10.1016/j.ekir.2025.08.037
Greipel, Leonie; Martens, Helge; Werfel, Lina; Gjerstad, Ann Christin; Auber, Bernd; Geffers, Robert; Bräsen, Jan H; Jankauskiene, Augustina; Bjerre, Anna; Kanzelmeyer, Nele; Haffner, Dieter; Weber, Ruthild G
发表日期：2025
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Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia-a case-control study

儿童急性淋巴细胞白血病治疗后发生第二原发性恶性肿瘤患者的种系变异——一项病例对照研究

期刊:Leukemia
影响因子:13.4
doi:10.1038/s41375-024-02173-2
Junk, Stefanie V; Förster, Alisa; Schmidt, Gunnar; Zimmermann, Martin; Fedders, Birthe; Haermeyer, Bernd; Bergmann, Anke K; Möricke, Anja; Cario, Gunnar; Auber, Bernd; Schrappe, Martin; Kratz, Christian P; Stanulla, Martin
白血病
细胞生物学
肿瘤
肿瘤免疫
发表日期：2024
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Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy

由EFL1双等位基因变异引起的施瓦赫曼-戴蒙德综合征，在婴儿早期表现为复杂且致命的临床病程

期刊:British Journal of Haematology
影响因子:3.8
doi:10.1111/bjh.19793
Cario, Holger; Bertrand, Alexis; Tan, Shengjiang; Auber, Bernd; Erlacher, Miriam; Mair, Eva-Maria; von Hardenberg, Sandra; Lebrecht, Dirk; Revy, Patrick; Warren, Alan J
发表日期：2024
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Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype

通过透射电镜评估支气管扩张和疑似原发性纤毛运动障碍但基因型不确定的成年患者的纤毛超微结构

期刊:Cells
影响因子:5.2
doi:10.3390/cells12222651
Staar, Ben O; Hegermann, Jan; Auber, Bernd; Ewen, Raphael; von Hardenberg, Sandra; Olmer, Ruth; Pink, Isabell; Rademacher, Jessica; Wetzke, Martin; Ringshausen, Felix C
发表日期：2023
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Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide

根据 HL7 基因组报告实施指南，为德国创建结构化的分子基因组学报告。

期刊:Journal of the American Medical Informatics Association
影响因子:4.6
doi:10.1093/jamia/ocad061
Stellmach, Caroline; Sass, Julian; Auber, Bernd; Boeker, Martin; Wienker, Thomas; Heidel, Andrew J; Benary, Manuela; Schumacher, Simon; Ossowski, Stephan; Klauschen, Frederick; Möller, Yvonne; Schmutzler, Rita; Ustjanzew, Arsenij; Werner, Patrick; Tomczak, Aurelie; Hölter, Thimo; Thun, Sylvia
发表日期：2023
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Prevalence of pericardial effusion in autosomal dominant polycystic kidney disease

常染色体显性多囊肾病中心包积液的患病率

期刊:Clinical Kidney Journal
影响因子:4.6
doi:10.1093/ckj/sfad181
Jost, Johanna Sophia; Kaireit, Till Frederik; Auber, Bernd; Beller, Johannes; Schmidt-Ott, Kai Martin; Schmitt, Roland; Wulfmeyer, Vera Christine
发表日期：2023
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Systematic genetic analysis of pediatric patients with autoinflammatory diseases

对患有自身炎症性疾病的儿科患者进行系统性基因分析

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1065907
Poker, Yvonne; von Hardenberg, Sandra; Hofmann, Winfried; Tang, Ming; Baumann, Ulrich; Schwerk, Nicolaus; Wetzke, Martin; Lindenthal, Viola; Auber, Bernd; Schlegelberger, Brigitte; Ott, Hagen; von Bismarck, Philipp; Viemann, Dorothee; Dressler, Frank; Klemann, Christian; Bergmann, Anke Katharina
炎症/感染
炎症
发表日期：2023
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A holistic approach to maximise diagnostic output in trio exome sequencing

采用整体方法最大限度地提高三重外显子组测序的诊断效率

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2023.1183891
von Hardenberg, Sandra; Wallaschek, Hannah; Du, Chen; Schmidt, Gunnar; Auber, Bernd
发表日期：2023
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