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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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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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
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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
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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
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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
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Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions

三例19p13.12微缺失重叠病例的基因型-表型关系

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2010.115
Bonaglia, Maria C; Marelli, Susan; Novara, Francesca; Commodaro, Simona; Borgatti, Renato; Minardo, Grazia; Memo, Luigi; Mangold, Elisabeth; Beri, Silvana; Zucca, Claudio; Brambilla, Daniele; Molteni, Massimo; Giorda, Roberto; Weber, Ruthild G; Zuffardi, Orsetta
发表日期：2010
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Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH

利用比较基因组杂交（CGH）、基于芯片的比较基因组杂交（array-based CGH）和间期荧光原位杂交（FISH）技术对神经节胶质瘤的基因组异常进行全面表征。

期刊:Brain Pathology
影响因子:6.2
doi:10.1111/j.1750-3639.2008.00122.x
Hoischen, Alexander; Ehrler, Marion; Fassunke, Jana; Simon, Matthias; Baudis, Michael; Landwehr, Christina; Radlwimmer, Bernhard; Lichter, Peter; Schramm, Johannes; Becker, Albert J; Weber, Ruthild G
胶质瘤
IF
发表日期：2008
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Allelic gain and amplification on the long arm of chromosome 17 in anaplastic meningiomas

间变性脑膜瘤中17号染色体长臂的等位基因获得和扩增

期刊:Brain Pathology
影响因子:6.2
doi:10.1111/j.1750-3639.2002.tb00429.x
Büschges, Rainer; Ichimura, Koichi; Weber, Ruthild G; Reifenberger, Guido; Collins, V Peter
神经科学
发表日期：2002
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