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

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

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies

下一代测序技术在先天性眼畸形诊断中的应用:遗传病因的鉴定及不同基因panel检测策略的比较

Neuhann, Lukas; Laner, Andreas; Holinski-Feder, Elke; Neuhann, Teresa

Posterior Graft Laryngotracheal Reconstruction for Bilateral Vocal Cord Paralysis in a Resource-Limited Setting: Building a Replicable Airway Reconstruction Program in Eldoret, Kenya

在资源匮乏的环境下,采用后路移植术重建双侧声带麻痹患者喉气管:在肯尼亚埃尔多雷特建立可复制的气道重建项目

Isaac, André; Menach, Owen; Rotich, Gerald; Callaghan, Amy; Isaac, Daniela M; Wiedermann, Josh; Holinski, Paula; Anton, Natalie; Propst, Evan; Ngoitsi, Henry

Colonoscopy findings in CDH1 carriers from a multicenter international study

一项多中心国际研究对CDH1基因携带者的结肠镜检查结果进行了分析

Chatterjee, Arjun; Hüneburg, Robert; Yang, Qijun; Morrison, Shannon; Bettzüge, Anna; Marwitz, Tim; Aretz, Stefan; Spier, Isabel; Ripperger, Tim; Redler, Silke; Kachanov, Mykyta; Volk, Alexander E; Vangala, Deepak B; Daum, Severin; Holinski-Feder, Elke; Steinke-Lange, Verena; Bahlke, Kathrin; Strassburg, Christian P; MejiaPerez, Lady Katherine; O'Malley, Margaret M; LaGuardia, Lisa; Liska, David; Macaron, Carole; Sommovilla, Joshua; Burke, Carol A; Nattermann, Jacob

Beyond the consult: Outcomes following pediatric VAD referral

咨询之外:儿科VAD转诊后的结果

Oliver, Shannon; Alsalmi, Asseel; Pidborochynski, Tara; Buchholz, Holger; Urschel, Simon; Holinski, Paula; Anand, Vijay; Ly, Diana; Conway, Jennifer

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

Eccentric hypertrophy impairs outcome after TAVR

偏心性肥大会影响经导管主动脉瓣置换术(TAVR)后的预后。

Thalmann, R; Obermeier, V; Westphal, Dominik S; Diebold, I; Trenkwalder, T; Pellegrini, C; Buglio, G; Seoudy, H; Hoppmann, P; Bradaric, C; Schön, U; Holinski-Feder, E; Lettmann, N; Ruge, H; Erlebach, M; Fuetterer, C; Laugwitz, K L; Krane, M; Frank, D; Kupatt, C

Predicting High-Risk Fetal Cardiac Disease Anticipated to Need Immediate Postnatal Stabilization and Intervention with Planned Pediatric Cardiac Operating Room Delivery

预测高危胎儿心脏病,预计需要立即进行产后稳定和干预,并计划在儿科心脏手术室分娩

Moray, Amol; Mugaba, Proscovia M; Joynt, Chloe; McBrien, Angela; Eckersley, Luke G; Phillipos, Ernest; Holinski, Paula; Ryerson, Lindsay; Coe, James Yashu; Chandra, Sujata; Wong, Billy; Derbyshire, Michele; Lefebvre, Maria; Al Aklabi, Mohammed; Hornberger, Lisa K

Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics

型强直性肌营养不良症患者的 CNBP 重复扩增的最新结构及其对标准诊断的意义

Martin Wendlandt, Hannes Erdmann, Simone Rost, Morghan C Lucas, Kerstin Becker, Stephanie Kleinle, Manuela Timmer, Andrea Bier, Gilbert Wunderlich, Stephan Wenninger, Maggie C Walter, Teresa Neuhann, Benedikt Schoser, Elke Holinski-Feder, Angela Abicht