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
文献求助 收藏

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
文献求助 收藏

Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.

人类肾脏和泌尿道先天性异常中茶衫锌指同源框 3 (TSHZ3) 基因的杂合变异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01710-y
Kesdiren Esra, Martens Helge, Brand Frank, Werfel Lina, Wedekind Lukas, Trowe Mark-Oliver, Schmitz Jessica, Hennies Imke, Geffers Robert, Gucev Zoran, Seeman Tomáš, Schmidt Sonja, Tasic Velibor, Fasano Laurent, Bräsen Jan H, Kispert Andreas, Christians Anne, Haffner Dieter, Weber Ruthild G
其它
Human
发表日期：2025
文献求助 收藏

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

胶质瘤家族中编码 DNA 聚合酶 ε 和 δ 催化亚基的 POLE 和 POLD1 的稀有种系变异

期刊:Acta Neuropathologica Communications
影响因子:6.2
doi:10.1186/s40478-023-01689-5
Christine A M Weber, Nicole Krönke, Valery Volk, Bernd Auber, Alisa Förster, Detlef Trost, Robert Geffers, Majid Esmaeilzadeh, Michael Lalk, Arya Nabavi, Amir Samii, Joachim K Krauss, Friedrich Feuerhake, Christian Hartmann, Bettina Wiese, Frank Brand #, Ruthild G Weber #
神经
肿瘤
胶质瘤
WB
发表日期：2023
文献求助 收藏

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life

全外显子组测序对出生后 1000 天内确诊的 CAKUT 患者的诊断效果和益处

期刊:Kidney International Reports
影响因子:5.7
doi:10.1016/j.ekir.2023.08.008
Lina Werfel, Helge Martens, Imke Hennies, Ann Christin Gjerstad, Kerstin Fröde, Gheona Altarescu, Sushmita Banerjee, Irene Valenzuela Palafoll, Robert Geffers, Martin Kirschstein, Anne Christians, Anna Bjerre, Dieter Haffner, Ruthild G Weber
发表日期：2023
文献求助 收藏

A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics

肌萎缩侧索硬化症中的 SUMO4 起始密码子变体会降低 SUMO4 表达并改变应激颗粒动力学

期刊:Journal of Neurology
影响因子:4.8
doi:10.1007/s00415-022-11126-7
Alma Osmanovic, Alisa Förster, Maylin Widjaja, Bernd Auber, Anibh M Das, Anne Christians, Frank Brand, Susanne Petri #, Ruthild G Weber #
免疫
神经
多发性硬化症
发表日期：2022
文献求助 收藏

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients

欧洲两组肌萎缩侧索硬化症患者中的杂合 DHTKD1 变异

期刊:Genes
影响因子:
doi:10.3390/genes13010084
Alma Osmanovic, Isabel Gogol, Helge Martens, Maylin Widjaja, Kathrin Müller, Olivia Schreiber-Katz, Friedrich Feuerhake, Claus-Dieter Langhans, Gunnar Schmidt, Peter M Andersen, Albert C Ludolph, Jochen H Weishaupt, Frank Brand, Susanne Petri, Ruthild G Weber
发表日期：2021
文献求助 收藏

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia

肌萎缩侧索硬化症中的SPG7基因突变：与遗传性痉挛性截瘫的遗传联系

期刊:Journal of Neurology
影响因子:4.6
doi:10.1007/s00415-020-09861-w
Osmanovic, Alma; Widjaja, Maylin; Förster, Alisa; Weder, Julia; Wattjes, Mike P; Lange, Inken; Sarikidi, Anastasia; Auber, Bernd; Raab, Peter; Christians, Anne; Preller, Matthias; Petri, Susanne; Weber, Ruthild G
发表日期：2020
文献求助 收藏

Rare heterozygous GDF6 variants in patients with renal anomalies.

肾脏畸形患者中罕见的杂合 GDF6 变异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-0678-9
Martens Helge, Hennies Imke, Getwan Maike, Christians Anne, Weiss Anna-Carina, Brand Frank, Gjerstad Ann Christin, Christians Arne, Gucev Zoran, Geffers Robert, Seeman Tomáš, Kispert Andreas, Tasic Velibor, Bjerre Anna, Lienkamp Soeren S, Haffner Dieter, Weber Ruthild G
其它
发表日期：2020
文献求助 收藏

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study

中欧肌萎缩侧索硬化症患者FIG4变异：全外显子组和靶向测序研究

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2016.186
Osmanovic, Alma; Rangnau, Isolde; Kosfeld, Anne; Abdulla, Susanne; Janssen, Claas; Auber, Bernd; Raab, Peter; Preller, Matthias; Petri, Susanne; Weber, Ruthild G
发表日期：2017
文献求助 收藏