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

Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative

作为NASGE计划的一部分,对超过29,000例疑似遗传性乳腺癌和卵巢癌(HBOC)病例的种系遗传数据进行了联合分析。

Henkel, Jan; Laner, Andreas; Locher, Melanie; Wohlfrom, Tobias; Neitzel, Birgit; Becker, Kerstin; Neuhann, Teresa; Abicht, Angela; Steinke-Lange, Verena; Klink, Barbara; Eichhorn, Birgit; Schmidt, Winfried; Berner, Daniel; Teubert, Anna; Holtorf, Anne; Heinrich, Sarah; Wildhardt, Gabriele; Schulze, Martin; von der Heyden, Laura; Hörtnagel, Konstanze; Steinberger, Daniela; Kleier, Saskia; Lorenz, Peter; Glaubitz, Ralf; Biskup, Saskia; Holinski-Feder, Elke

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

Development of myelination and axon diameter for fast and precise action potential conductance

髓鞘形成和轴突直径的发育,实现快速而精确的动作电位传导

Alisha L Nabel, Laurin Teich, Hilde Wohlfrom, Olga Alexandrova, Martin Heß, Michael Pecka, Benedikt Grothe

Ambient sound stimulation tunes axonal conduction velocity by regulating radial growth of myelin on an individual, axon-by-axon basis

环境声音刺激通过调节单个轴突上的髓鞘径向生长来调节轴突传导速度

Mihai Stancu, Hilde Wohlfrom, Martin Heß, Benedikt Grothe, Christian Leibold, Conny Kopp-Scheinpflug

Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients

对近7000名疑似遗传性乳腺癌/卵巢癌综合征(HBOC)患者进行扩大种系基因检测的诊断率和临床意义

Henkel, Jan; Laner, Andreas; Locher, Melanie; Wohlfrom, Tobias; Neitzel, Birgit; Becker, Kerstin; Neuhann, Teresa; Abicht, Angela; Steinke-Lange, Verena; Holinski-Feder, Elke

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

缩小差距 - 通过短读下一代测序检测 5q-脊髓性肌萎缩症以及诊断患者队列中的意外结果

Stephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, Tobias Wohlfrom, Stefanie Gehling, Florentine Scharf, Simone Rost, Eva-Christina Prott, Susanne Grinzinger, Anna Hotter, Verena Haug, Sabine Niemeier, Lucia Wiethoff-Ubrig, Tim Hagenacker, Klaus Goldhahn, Arpad von Moers, Maggie C Walter, Peter R

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

Input timing for spatial processing is precisely tuned via constant synaptic delays and myelination patterns in the auditory brainstem

听觉脑干中恒定的突触延迟和髓鞘化模式,能够精确调节空间处理的输入时序。

Stange-Marten, Annette; Nabel, Alisha L; Sinclair, James L; Fischl, Matthew; Alexandrova, Olga; Wohlfrom, Hilde; Kopp-Scheinpflug, Conny; Pecka, Michael; Grothe, Benedikt

A dlx2- and pax6-dependent transcriptional code for periglomerular neuron specification in the adult olfactory bulb

成人嗅球中球周神经元特征的 dlx2 和 pax6 依赖性转录代码

Monika S Brill, Marina Snapyan, Hilde Wohlfrom, Jovica Ninkovic, Melanie Jawerka, Grant S Mastick, Ruth Ashery-Padan, Armen Saghatelyan, Benedikt Berninger, Magdalena Götz