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

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing

利用靶向平行长读长测序技术分析德国患者队列中的重复序列相关性共济失调

Erdmann, Hannes; Schaub, Annalisa; Lucas, Morghan C; Scholz, Veronika; Benet-Pagès, Anna; Becker, Kerstin; Dineiger, Christine; Mayer, Veronika; van Buren, Inga; Breithausen, Eva; Akbari, Karl; Cordts, Isabell; Sauer, Mayra; Schneider, Christine; Krakowsky, Rosanna; Schnabel, Franziska; Dunker, Konstanze; Fabritius, Lena; Gerb, Johannes; Grabova, Denis; Möhwald, Ken; Näher, Marius; Steinmetz, Karoline; Thiessen, Franziska; Jäck, Alexander; Schneider-Gold, Christiane; Zittel, Simone; Petersen, Christina; Schreyer, Isolde; Mämecke, Larissa; Wilfling, Sibylle; Wunderlich, Gilbert; Brenner, David; Hellenbroich, Yorck; Muhle, Kirsten; Huchtemann, Tessa; Claus, Inga; Klopstock, Thomas; Strupp, Michael; Levin, Johannes; Höglinger, Günter U; Huppert, Doreen; Becker-Bense, Sandra; Filippopulos, Filipp; Kilpert, Fabian; Leitão, Elsa; Kaya, Sabine; Depienne, Christel; Schöberl, Florian; Neuhann, Teresa; Holinski-Feder, Elke; Zwergal, Andreas; Abicht, Angela

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

使用新的 BRCA1/BRCA2 ENIGMA 评分标准对 BRCA1 和 BRCA2 中的意义未明变异 (VUS) 进行重新分类,证明了 ClinGen ENIGMA 专家组规范优于标准的 ACMG/AMP 分类系统。

Benet-Pagès, Anna; Laner, Andreas; Nassar, Luis R; Wohlfrom, Tobias; Steinke-Lange, Verena; Haeussler, Maximilian; Holinski-Feder, Elke

The UCSC Genome Browser database: 2024 update

UCSC 基因组浏览器数据库:2024 年更新

Brian J Raney, Galt P Barber, Anna Benet-Pagès, Jonathan Casper, Hiram Clawson, Melissa S Cline, Mark Diekhans, Clayton Fischer, Jairo Navarro Gonzalez, Glenn Hickey, Angie S Hinrichs, Robert M Kuhn, Brian T Lee, Christopher M Lee, Phillipe Le Mercier, Karen H Miga, Luis R Nassar, Parisa Nejad, Bene

The UCSC Genome Browser database: 2023 update

UCSC 基因组浏览器数据库:2023 年更新

Luis R Nassar, Galt P Barber, Anna Benet-Pagès, Jonathan Casper, Hiram Clawson, Mark Diekhans, Clay Fischer, Jairo Navarro Gonzalez, Angie S Hinrichs, Brian T Lee, Christopher M Lee, Pranav Muthuraman, Beagan Nguy, Tiana Pereira, Parisa Nejad, Gerardo Perez, Brian J Raney, Daniel Schmelter, Matthew

Quality assurance within the context of genome diagnostics (a german perspective)

基因组诊断中的质量保证(德国视角)

Florian, Kraft; Benet-Pagès, Anna; Berner, Daniel; Teubert, Anna; Eck, Sebastian; Arnold, Norbert; Bauer, Peter; Begemann, Matthias; Sturm, Marc; Kleinle, Stephanie; B Haack, Tobias; Eggermann, Thomas

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients

循环肿瘤DNA体细胞拷贝数变异和片段化分析在结直肠癌患者癌症筛查和治疗监测中的应用

Hallermayr, Ariane; Wohlfrom, Tobias; Steinke-Lange, Verena; Benet-Pagès, Anna; Scharf, Florentine; Heitzer, Ellen; Mansmann, Ulrich; Haberl, Christopher; de Wit, Maike; Vogelsang, Holger; Rentsch, Markus; Holinski-Feder, Elke; Pickl, Julia M A

The UCSC Genome Browser database: 2022 update

UCSC基因组浏览器数据库:2022年更新

Lee, Brian T; Barber, Galt P; Benet-Pagès, Anna; Casper, Jonathan; Clawson, Hiram; Diekhans, Mark; Fischer, Clay; Gonzalez, Jairo Navarro; Hinrichs, Angie S; Lee, Christopher M; Muthuraman, Pranav; Nassar, Luis R; Nguy, Beagan; Pereira, Tiana; Perez, Gerardo; Raney, Brian J; Rosenbloom, Kate R; Schmelter, Daniel; Speir, Matthew L; Wick, Brittney D; Zweig, Ann S; Haussler, David; Kuhn, Robert M; Haeussler, Maximilian; Kent, W James

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

基于HPO的虚拟基因检测:一种用于猝死分子尸检的新有效方法

Ulrike Schön ,Anna Holzer ,Andreas Laner ,Stephanie Kleinle ,Florentine Scharf ,Anna Benet-Pagès ,Oliver Peschel ,Elke Holinski-Feder ,Isabel Diebold

Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis

勘误:通过全基因组ENU诱变生成的代谢性骨病新小鼠模型

Tandarić, Tana; Gutiérrez-de-Terán, Hugo; Sabrautzki, Sibylle; Rubio-Aliaga, Isabel; Hans, Wolfgang; Fuchs, Helmut; Rathkolb, Birgit; Calzada-Wack, Julia; Cohrs, Christian M; Klaften, Matthias; Seedorf, Hartwig; Eck, Sebastian; Benet-Pagès, Ana; Favor, Jack; Esposito, Irene; Strom, Tim M; Wolf, Eckhard; Lorenz-Depiereux, Bettina; Hrabĕ de Angelis, Martin

Erratum to: Status and access to the Collaborative Cross population

更正:关于“协作交叉人口的状态和访问权限”

Mott, Richard; Flint, Jonathan; Sabrautzki, Sibylle; Rubio-Aliaga, Isabel; Hans, Wolfgang; Fuchs, Helmut; Rathkolb, Birgit; Calzada-Wack, Julia; Cohrs, Christian M; Klaften, Matthias; Seedorf, Hartwig; Eck, Sebastian; Benet-Pagès, Ana; Favor, Jack; Esposito, Irene; Strom, Tim M; Wolf, Eckhard; Lorenz-Depiereux, Bettina; Hrabĕ de Angelis, Martin; Welsh, Catherine E; Miller, Darla R; Manly, Kenneth F; Wang, Jeremy; McMillan, Leonard; Morahan, Grant; Mott, Richard; Iraqi, Fuad A; Threadgill, David W; de Villena, Fernando Pardo-Manuel