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

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing

肌张力障碍的遗传多样性和扩展表型:来自大规模外显子组测序的启示

Thomsen, Mirja; Ott, Fabian; Loens, Sebastian; Kilic-Berkmen, Gamze; Tan, Ai Huey; Lim, Shen-Yang; Lohmann, Ebba; Schröder, Kaja M; Ipsen, Lea; Nothacker, Lena A; Welzel, Linn; Rudnik, Alexandra S; Hinrichs, Frauke; Odorfer, Thorsten; Zeuner, Kirsten E; Schumann, Friederike; Kühn, Andrea A; Zittel, Simone; Moeller, Marius; Pfister, Robert; Kamm, Christoph; Lang, Anthony E; Tay, Yi Wen; de Almeida Marcelino, Ana Luísa; Vidailhet, Marie; Roze, Emmanuel; Perlmutter, Joel S; Feuerstein, Jeanne S; Fung, Victor S C; Chang, Florence; Barbano, Richard L; Bellows, Steven; Wagle Shukla, Aparna A; Espay, Alberto J; LeDoux, Mark S; Berman, Brian D; Reich, Stephen; Deik, Andres; Franke, Andre; Wittig, Michael; Franzenburg, Sören; Volkmann, Jens; Brüggemann, Norbert; Jinnah, H A; Bäumer, Tobias; Klein, Christine; Busch, Hauke; Lohmann, Katja

bloodAGENT: a versatile tool for blood group typing and genomic variation analysis

bloodAGENT:一款用于血型鉴定和基因组变异分析的多功能工具

Wittig, Michael; Steiert, Tim A; Gassner, Christoph; Franke, Andre

Developmental trajectories and cooperating genomic events define molecular subtypes of BCR::ABL1-positive ALL

发育轨迹和协同基因组事件定义了 BCR::ABL1 阳性 ALL 的分子亚型。

Bastian, Lorenz; Beder, Thomas; Barz, Malwine J; Bendig, Sonja; Bartsch, Lorenz; Walter, Wencke; Wolgast, Nadine; Brändl, Björn; Rohrandt, Christian; Hansen, Björn-Thore; Hartmann, Alina M; Iben, Katharina; Das Gupta, Dennis; Denker, Miriam; Zimmermann, Johannes; Wittig, Michael; Chitadze, Guranda; Neumann, Martin; Schneller, Folker; Fiedler, Walter; Steffen, Björn; Stelljes, Matthias; Faul, Christoph; Schwartz, Stefan; Müller, Franz-Josef; Cario, Gunnar; Harder, Lana; Haferlach, Claudia; Pfeifer, Heike; Gökbuget, Nicola; Brüggemann, Monika; Baldus, Claudia D

Blood DNA methylomic signatures associated with CSF biomarkers of Alzheimer's disease in the EMIF-AD study

EMIF-AD 研究中与阿尔茨海默病脑脊液生物标志物相关的血液 DNA 甲基化组学特征

Smith, Rebecca G; Pishva, Ehsan; Kouhsar, Morteza; Imm, Jennifer; Dobricic, Valerija; Johannsen, Peter; Wittig, Michael; Franke, Andre; Vandenberghe, Rik; Schaeverbeke, Jolien; Freund-Levi, Yvonne; Frölich, Lutz; Scheltens, Philip; Teunissen, Charlotte E; Frisoni, Giovanni; Blin, Olivier; Richardson, Jill C; Bordet, Régis; Engelborghs, Sebastiaan; de Roeck, Ellen; Martinez-Lage, Pablo; Altuna, Miren; Tainta, Mikel; Lleó, Alberto; Sala, Isabel; Popp, Julius; Peyratout, Gwendoline; Winchester, Laura; Nevado-Holgado, Alejo; Verhey, Frans; Tsolaki, Magda; Andreasson, Ulf; Blennow, Kaj; Zetterberg, Henrik; Streffer, Johannes; Vos, Stephanie J B; Lovestone, Simon; Visser, Pieter Jelle; Bertram, Lars; Lunnon, Katie

Genome-wide meta-analysis of short-tandem repeats for Parkinson's disease risk using genotype imputation

利用基因型推断进行帕金森病风险的短串联重复序列全基因组荟萃分析

Ohlei, Olena; Paul, Kimberly; Nielsen, Susan Searles; Gmelin, David; Dobricic, Valerija; Altmann, Vivian; Schilling, Marcel; Bronstein, Jeff M; Franke, Andre; Wittig, Michael; Parkkinen, Laura; Hansen, Johnni; Checkoway, Harvey; Ritz, Beate; Bertram, Lars; Lill, Christina M

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing

肌张力障碍的遗传多样性和扩展表型:来自大规模外显子组测序的启示

Thomsen, Mirja; Ott, Fabian; Loens, Sebastian; Kilic-Berkmen, Gamze; Tan, Ai Huey; Lim, Shen-Yang; Lohmann, Ebba; Schröder, Kaja M; Ipsen, Lea; Nothacker, Lena A; Welzel, Linn; Rudnik, Alexandra S; Hinrichs, Frauke; Odorfer, Thorsten; Zeuner, Kirsten E; Schumann, Friederike; Kühn, Andrea A; Zittel, Simone; Moeller, Marius; Pfister, Robert; Kamm, Christoph; Lang, Anthony E; Tay, Yi Wen; Vidailhet, Marie; Roze, Emmanuel; Perlmutter, Joel S; Feuerstein, Jeanne S; Fung, Victor S C; Chang, Florence; Barbano, Richard L; Bellows, Steven; Shukla, Aparna A Wagle; Espay, Alberto J; LeDoux, Mark S; Berman, Brian D; Reich, Stephen; Deik, Andres; Franke, Andre; Wittig, Michael; Franzenburg, Sören; Volkmann, Jens; Brüggemann, Norbert; Jinnah, H A; Bäumer, Tobias; Klein, Christine; Busch, Hauke; Lohmann, Katja

Haplotype sequence collection of ABO blood group alleles by long-read sequencing reveals putative A1-diagnostic variants

利用长读长测序技术收集ABO血型等位基因的单倍型序列,揭示了潜在的A1诊断变异。

Gueuning, Morgan; Thun, Gian Andri; Wittig, Michael; Galati, Anna-Lena; Meyer, Stefan; Trost, Nadine; Gourri, Elise; Fuss, Janina; Sigurdardottir, Sonja; Merki, Yvonne; Neuenschwander, Kathrin; Busch, Yannik; Trojok, Peter; Schäfer, Marco; Gottschalk, Jochen; Franke, Andre; Gassner, Christoph; Peter, Wolfgang; Frey, Beat M; Mattle-Greminger, Maja P

Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response

天疱疮中组蛋白(去)乙酰化相关基因的遗传关联和差异RNA表达——自身免疫反应中可能的表观遗传效应

Sulzbach Denardin, Maiara; Bumiller-Bini Hoch, Valéria; Salviano-Silva, Amanda; Lobo-Alves, Sara Cristina; Adelman Cipolla, Gabriel; Malheiros, Danielle; Augusto, Danillo G; Wittig, Michael; Franke, Andre; Pföhler, Claudia; Worm, Margitta; van Beek, Nina; Goebeler, Matthias; Sárdy, Miklós; Ibrahim, Saleh; Busch, Hauke; Schmidt, Enno; Hundt, Jennifer Elisabeth; Petzl-Erler, Maria Luiza; Beate Winter Boldt, Angelica

Genome-wide QTL mapping across three tissues highlights several Alzheimer's and Parkinson's disease loci potentially acting via DNA methylation

跨三种组织的全基因组QTL定位突显了几个可能通过DNA甲基化发挥作用的阿尔茨海默病和帕金森病基因位点。

Ohlei, Olena; Sommerer, Yasmine; Dobricic, Valerija; Homann, Jan; Deecke, Laura; Schilling, Marcel; Bartrés-Faz, David; Cattaneo, Gabriele; Düzel, Sandra; Fjell, Anders M; Lindenberger, Ulman; Pascual-Leone, Álvaro; Sedghpour Sabet, Sanaz; Solé-Padullés, Cristina; Tormos, Josep M; Vetter, Valentin M; Walhovd, Kristine B; Wesse, Tanja; Wittig, Michael; Franke, Andre; Demuth, Ilja; Lill, Christina M; Bertram, Lars

UBTF::ATXN7L3 gene fusion defines novel B cell precursor ALL subtype with CDX2 expression and need for intensified treatment

UBTF::ATXN7L3基因融合定义了一种新型B细胞前体ALL亚型,该亚型表达CDX2,需要强化治疗。

Bastian, Lorenz; Hartmann, Alina M; Beder, Thomas; Hänzelmann, Sonja; Kässens, Jan; Bultmann, Miriam; Hoeppner, Marc P; Franzenburg, Sören; Wittig, Michael; Franke, Andre; Nagel, Inga; Spielmann, Malte; Reimer, Niklas; Busch, Hauke; Schwartz, Stefan; Steffen, Björn; Viardot, Andreas; Döhner, Konstanze; Kondakci, Mustafa; Wulf, Gerald; Wendelin, Knut; Renzelmann, Andrea; Kiani, Alexander; Trautmann, Heiko; Neumann, Martin; Gökbuget, Nicola; Brüggemann, Monika; Baldus, Claudia D