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

Charles Weissmann (1931–2025), an outstanding and captivating molecular biologist

查尔斯·魏斯曼(1931–2025),一位杰出而富有魅力的分子生物学家

van Rheenen, Wouter; van der Spek, Rick A A; Bakker, Mark K; van Vugt, Joke J F A; Hop, Paul J; Zwamborn, Ramona A J; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H P; van Eijk, Kristel R; Kooyman, Maarten; Byrne, Ross P; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E; Shaw, Pamela J; Hardy, John; Orrell, Richard W; Sendtner, Michael; Meyer, Thomas; Başak, Nazli; van der Kooi, Anneke J; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Sorarù, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chiò, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stéphanie; Meininger, Vincent; Salachas, François; Mora Pardina, Jesus S; Assialioui, Abdelilah; Rojas-García, Ricardo; Dion, Patrick A; Ross, Jay P; Ludolph, Albert C; Weishaupt, Jochen H; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A M; Saker-Delye, Safa; Wood, Nicholas W; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C; Olsen, Catherine M; Uitterlinden, Andre G; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nöthen, Markus M; Amouyel, Philippe; Traynor, Bryan J; Singleton, Andrew B; Mitne Neto, Miguel; Cauchi, Ruben J; Ophoff, Roel A; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Jörk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W; Steinbach, Robert; Hübner, Christian A; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaž; Zidar, Janez; Ravnik-Glavač, Metka; Glavač, Damjan; Stević, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P; Kiernan, Matthew C; Benyamin, Beben; Henderson, Robert D; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A; Needham, Merrilee; Ngo, Shyuan T; Nicholson, Garth A; Pamphlett, Roger; Rowe, Dominic B; Steyn, Frederik J; Williams, Kelly L; Mather, Karen A; Sachdev, Perminder S; Henders, Anjali K; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A; Silani, Vincenzo; Curtis, Charles J; Breen, Gerome; Glass, Jonathan D; Brown, Robert H Jr; Landers, John E; Shaw, Christopher E; Andersen, Peter M; Groen, Ewout J N; van Es, Michael A; Pasterkamp, R Jeroen; Fan, Dongsheng; Garton, Fleur C; McRae, Allan F; Davey Smith, George; Gaunt, Tom R; Eberle, Michael A; Mill, Jonathan; McLaughlin, Russell L; Hardiman, Orla; Kenna, Kevin P; Wray, Naomi R; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H; Veldink, Jan H; Borst, Piet; Flavell, Richard A

Analysis and benchmarking of small and large genomic variants across tandem repeats

对串联重复序列中大小基因组变异的分析和基准测试

English, Adam C; Dolzhenko, Egor; Ziaei Jam, Helyaneh; McKenzie, Sean K; Olson, Nathan D; De Coster, Wouter; Park, Jonghun; Gu, Bida; Wagner, Justin; Eberle, Michael A; Gymrek, Melissa; Chaisson, Mark J P; Zook, Justin M; Sedlazeck, Fritz J

The Platinum Pedigree: a long-read benchmark for genetic variants

白金谱系:基因变异的长读长基准

Kronenberg, Zev; Nolan, Cillian; Porubsky, David; Mokveld, Tom; Rowell, William J; Lee, Sangjin; Dolzhenko, Egor; Chang, Pi-Chuan; Holt, James M; Saunders, Christopher T; Olson, Nathan D; Steely, Cody J; McGee, Sean; Guarracino, Andrea; Koundinya, Nidhi; Harvey, William T; Watkins, W Scott; Munson, Katherine M; Hoekzema, Kendra; Chua, Khi Pin; Chen, Xiao; Fanslow, Cairbre; Lambert, Christine; Dashnow, Harriet; Garrison, Erik; Smith, Joshua D; Lansdorp, Peter M; Zook, Justin M; Carroll, Andrew; Jorde, Lynn B; Neklason, Deborah W; Quinlan, Aaron R; Eichler, Evan E; Eberle, Michael A

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

利用HiFi测序技术对高度相似的旁系同源基因进行全基因组分析

Chen, Xiao; Baker, Daniel; Dolzhenko, Egor; Devaney, Joseph M; Noya, Jessica; Berlyoung, April S; Brandon, Rhonda; Hruska, Kathleen S; Lochovsky, Lucas; Kruszka, Paul; Newman, Scott; Farrow, Emily; Thiffault, Isabelle; Pastinen, Tomi; Kasperaviciute, Dalia; Gilissen, Christian; Vissers, Lisenka; Hoischen, Alexander; Berger, Seth; Vilain, Eric; Délot, Emmanuèle; Eberle, Michael A

HiFi long-read genomes for difficult-to-detect, clinically relevant variants

用于检测难以检测的临床相关变异的高保真长读基因组测序

Höps, Wolfram; Weiss, Marjan M; Derks, Ronny; Galbany, Jordi Corominas; Ouden, Amber den; van den Heuvel, Simone; Timmermans, Raoul; Smits, Jos; Mokveld, Tom; Dolzhenko, Egor; Chen, Xiao; van den Wijngaard, Arthur; Eberle, Michael A; Yntema, Helger G; Hoischen, Alexander; Gilissen, Christian; Vissers, Lisenka E L M

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis

疾病相关短串联重复序列在肌萎缩侧索硬化症中的作用

van Vugt, Joke J F A; Zwamborn, Ramona A J; Dolzhenko, Egor; Eberle, Michael A; Weisburd, Ben; Bekema, Erwin; Kooyman, Maarten; Wang, Bi-Nan; Kamsteeg, Erik-Jan; Losekoot, Monique; Baas, Frank; Novy, Camilla; Høyer, Helle; van Eijk, Ruben P A; van Es, Michael A; van Rheenen, Wouter; Al-Chalabi, Ammar; van den Berg, Leonard H; Veldink, Jan H

Complex structural variant visualization with SVTopo

利用 SVTopo 进行复杂结构变异可视化

Belyeu, Jonathan R; Rowell, William J; Lake, Juniper A; Holt, James Matthew; Kronenberg, Zev; Saunders, Christopher T; Eberle, Michael A

Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling

Sawfish:利用局部单倍型模型改进长读长结构变异发现和基因分型

Saunders, Christopher T; Holt, James M; Baker, Daniel N; Lake, Juniper A; Belyeu, Jonathan R; Kronenberg, Zev; Rowell, William J; Eberle, Michael A

Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity

对 1027 个长读长基因组进行详细的串联重复序列等位基因分析,揭示了全基因组范围内的致病模式

Danzi, Matt C; Xu, Isaac R L; Fazal, Sarah; Dolzhenko, Egor; Pellerin, David; Weisburd, Ben; Reuter, Chloe; Sampson, Jacinda; Folland, Chiara; Wheeler, Matthew; O'Donnell-Luria, Anne; Wuchty, Stefan; Ravenscroft, Gianina; Eberle, Michael A; Zuchner, Stephan

Characterization and visualization of tandem repeats at genome scale

基因组规模串联重复序列的表征和可视化

Dolzhenko, Egor; English, Adam; Dashnow, Harriet; De Sena Brandine, Guilherme; Mokveld, Tom; Rowell, William J; Karniski, Caitlin; Kronenberg, Zev; Danzi, Matt C; Cheung, Warren A; Bi, Chengpeng; Farrow, Emily; Wenger, Aaron; Chua, Khi Pin; Martínez-Cerdeño, Verónica; Bartley, Trevor D; Jin, Peng; Nelson, David L; Zuchner, Stephan; Pastinen, Tomi; Quinlan, Aaron R; Sedlazeck, Fritz J; Eberle, Michael A