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

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

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

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

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

采用基因型优先的方法识别CDH1种系变异与癌症表型之间的关联:欧洲遗传肿瘤风险综合征参考网络的多中心研究

Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia; Pinheiro, Hugo; Sousa, Liliana; Monteiro, Rita; Maqueda, Joaquin J; Fernandes, Susana; Carneiro, Fátima; Pinto, Nádia; Lemos, Carolina; Pinto, Carla; Teixeira, Manuel R; Aretz, Stefan; Bajalica-Lagercrantz, Svetlana; Balmaña, Judith; Blatnik, Ana; Benusiglio, Patrick R; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capellá, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignés, Camille; Domínguez-Garrido, Elena; Egas, Conceição; Evans, D Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C; Coulet, Florence; Garcia-Barcina, María; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski-Feder, Elke; Hüneburg, Robert; Krajc, Mateja; Lagerstedt-Robinson, Kristina; Lázaro, Conxi; Ligtenberg, Marjolijn J L; Martínez-Bouzas, Cristina; Merino, Sonia; Michils, Geneviève; Novaković, Srdjan; Patiño-García, Ana; Ranzani, Guglielmina Nadia; Schröck, Evelin; Silva, Inês; Silveira, Catarina; Soto, José L; Spier, Isabel; Steinke-Lange, Verena; Tedaldi, Gianluca; Tejada, María-Isabel; Woodward, Emma R; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

携带致病性错配修复基因变异并接受早期癌症诊断和治疗监测的患者的年龄、基因和性别死亡率:来自前瞻性林奇综合征数据库的报告

Dominguez-Valentin, Mev; Haupt, Saskia; Seppälä, Toni T; Sampson, Julian R; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Dębniak, Tadeusz; Fruscio, Robert; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lior H; Laish, Ido; Vainer, Elez; Vaccaro, Carlos; Carraro, Dirce Maria; Monahan, Kevin; Half, Elizabeth; Stakelum, Aine; Winter, Des; Kennelly, Rory; Gluck, Nathan; Sheth, Harsh; Abu-Freha, Naim; Greenblatt, Marc; Rossi, Benedito Mauro; Bohorquez, Mabel; Cavestro, Giulia Martina; Lino-Silva, Leonardo S; Horisberger, Karoline; Tibiletti, Maria Grazia; Nascimento, Ivana do; Thomas, Huw; Rossi, Norma Teresa; Apolinário da Silva, Leandro; Zaránd, Attila; Ruiz-Bañobre, Juan; Heuveline, Vincent; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Peltomäki, Päivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L; Win, Aung Ko; Haile, Robert W; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A; Figueiredo, Jane; Buchanan, Daniel D; Thibodeau, Stephen N; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Schröck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hüneburg, Robert; Redler, Silke; Büttner, Reinhard; Weitz, Jürgen; Pineda, Marta; Duenas, Nuria; Vidal, Joan Brunet; Moreira, Leticia; Sánchez, Ariadna; Hovig, Eivind; Nakken, Sigve; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma; Mints, Miriam; Goldberg, Yael; Tjandra, Douglas; Ten Broeke, Sanne W; Kariv, Revital; Rosner, Guy; Advani, Suresh H; Thomas, Lidiya; Shah, Pankaj; Shah, Mithun; Neffa, Florencia; Esperon, Patricia; Pavicic, Walter; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia Alejandra; Moslein, Gabriela; Moller, Pål

Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays

cfDNA参考物质对液体活检NGS检测临床性能的影响

Hallermayr, Ariane; Keßler, Thomas; Fujera, Moritz; Liesfeld, Ben; Bernstein, Samuel; von Ameln, Simon; Schanze, Denny; Steinke-Lange, Verena; Pickl, Julia M A; Neuhann, Teresa M; Holinski-Feder, Elke

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

WNK2基因的种系突变可能与锯齿状息肉综合征相关。

Soares de Lima, Yasmin; Arnau-Collell, Coral; Muñoz, Jenifer; Herrera-Pariente, Cristina; Moreira, Leticia; Ocaña, Teresa; Díaz-Gay, Marcos; Franch-Expósito, Sebastià; Cuatrecasas, Miriam; Carballal, Sabela; Lopez-Novo, Anael; Moreno, Lorena; Fernàndez, Guerau; Díaz de Bustamante, Aranzazu; Peters, Sophia; Sommer, Anna K; Spier, Isabel; Te Paske, Iris B A W; van Herwaarden, Yasmijn J; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A; Winship, Ingrid M; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; de Voer, Richarda; Buchanan, Daniel D; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia; Castellvi-Bel, Sergi

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome

转录捕获和超深长读 RNA 测序 (CAPLRseq) 用于诊断 HNPCC/Lynch 综合征

Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf