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

Characterization of ESR1 alterations in patients with breast and gynecologic cancers

乳腺癌和妇科癌症患者ESR1改变的特征分析

Basu, Gargi D; Innis, Paige E; Deem, Angela K; Starodynov, Arthur; Udhane, Sameer S; Szelinger, Szabolcs; Wang, Min; LoBello, Janine R; Baehner, Frederick L; De La O, Jean-Paul; O'Shaughnessy, Joyce

A Concordance Study among 26 NGS Laboratories Participating in the NCI Molecular Analysis for Therapy Choice Clinical Trial

参与NCI分子分析治疗选择临床试验的26家NGS实验室的一致性研究

Zane, Linda K; Yee, Laura M; Chang, Ting-Chia; Sklar, Jeffrey; Yang, Guangxiao; Wen, Jia Di; Li, Peining; Harrington, Robin; Sims, David J; Harper, Kneshay; Trent, Jeffrey M; LoBello, Janine R; Szelinger, Szabolcs; Benson, Kasey; Zeng, Jia; Poorman, Kelsey; Xu, Danbin; Frampton, Garrett M; Pavlick, Dean C; Miller, Vincent A; Tandon, Bevan; Swat, Wojciech; Weiss, Lawrence; Funari, Vincent Anthony; Conroy, Jeffrey M; Prescott, James L; Chandra, Pranil K; Ma, Charles; Champion, Kristen J; Baschkopf, Gregory X; Fesko, Yuri A; Freitas, Tracey Allen K; Tomlins, Scott A; Hovelson, Daniel H; White, Kevin; Sorrells, Shelly; Tell, Robert; Beaubier, Nike; King, David; Li, Lei; Kelly, Kevin; Uvalic, Jasmina; Meyers, Bridgette; Kolhe, Ravindra; Lindeman, Neal I; Baltay, Michele; Sholl, Lynette M; Lopategui, Jean; Vail, Eric; Zhang, Wenjuan; Telatar, Milhan; Afkhami, Michelle; Hsiao, Susan J; Mansukhani, Mahesh M; Adams, Emily; Jiang, LiQun; Aldape, Kenneth D; Raffeld, Mark; Xi, Liqiang; Stehr, Henning; Segal, Jeremy P; Aisner, Dara L; Davies, Kurtis D; Brown, Noah A; Livingston, Robert J; Konnick, Eric Q; Song, Wei; Solomon, James P; Walther, Zenta; McShane, Lisa M; Harris, Lyndsay N; Chen, Alice P; Tsongalis, Gregory J; Hamilton, Stanley R; Flaherty, Keith T; O'Dwyer, Peter J; Conley, Barbara A; Patton, David R; Iafrate, A John; Williams, P Mickey; Tricoli, James V; Karlovich, Chris

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

利用外显子组和基因组测序扩大遗传性疾病携带者筛查范围

Belnap, N; Ramsey, K; Abraham, A; Ryan, A; Rangasamy, S; Bonfitto, A; Naymik, M; Huentelman, M; Strom, S; Perry, D; Subramaniam, A; Grody, W W; Szelinger, S; Narayanan, V

Preparing for the unexpected: Recommendations for returning secondary findings in late-stage cancer care

应对意外情况:晚期癌症治疗中关于反馈次要发现的建议

Currey, Madeline; Solomon, Ilana; McGraw, Sarah; Shen, Jenny; Munoz, Francisco; Sosa, Ernesto; Puello-Lozano, Vanessa; Wing, Sam; Lopez, Lisa; Afkhami, Michelle; LoBello, Janine; Szelinger, Szabolcs; Gray, Stacy W

Underreporting of SMARCB1 alteration by clinical sequencing: Integrative patho-genomic analysis captured SMARCB1/INI-1 deficiency in a vulvar yolk sac tumor

临床测序对SMARCB1改变的漏报:整合病理基因组学分析在外阴卵黄囊瘤中发现了SMARCB1/INI-1缺陷

Wei, Christina H; Wang, Edward; Sadimin, Evita; Rodriguez-Rodriguez, Lorna; Agulnik, Mark; Yoon, Janet; LoBello, Janine; Szelinger, Szabolcs; Anderson, Clarke

A Case Report of Immunotherapy-Resistant MSI-H Gastric Cancer with Significant Intrapatient Tumoral Heterogeneity Characterized by Histologic Dedifferentiation

一例免疫治疗耐药的MSI-H胃癌病例报告,该病例具有显著的患者内肿瘤异质性,并以组织学去分化为特征

Kethireddy, Nikhila; Arvanitis, Leonidas; LoBello, Janine; Woo, Yanghee; Szelinger, Szabolcs; Chao, Joseph

Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion

复发和难治性儿童实体瘤的基因组和转录组分析揭示了其多样化的分子图谱和免疫逃逸机制

Byron, Sara A; Hendricks, William P D; Nagulapally, Abhinav B; Kraveka, Jacqueline M; Ferguson, William S; Brown, Valerie I; Eslin, Don E; Mitchell, Deanna; Cornelius, Albert; Roberts, William; Isakoff, Michael S; Oesterheld, Javier E; Wada, Randal K; Rawwas, Jawhar; Neville, Kathleen; Zage, Peter E; Harrod, Virginia L; Bergendahl, Genevieve; VanSickle, Elizabeth; Dykema, Karl; Bond, Jeffrey; Chou, Hsien-Chao; Wei, Jun S; Wen, Xinyu; Reardon, Hue V; Roos, Alison; Nasser, Sara; Izatt, Tyler; Enriquez, Daniel; Hegde, Apurva M; Cisneros, Faith; Christofferson, Austin; Turner, Bryce; Szelinger, Szabolcs; Keats, Jonathan J; Halperin, Rebecca F; Khan, Javed; Saulnier Sholler, Giselle L; Trent, Jeffrey M

Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice

Ntrk1 突变与多重家族中的躁郁症和遗传性肾病共同分离,导致小鼠神经元生长缺陷和抑郁样行为

Kazuo Nakajima, Alannah Miranda, David W Craig, Tatyana Shekhtman, Stanislav Kmoch, Anthony Bleyer, Szabolcs Szelinger, Tadafumi Kato, John R Kelsoe

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

GFPT1基因移码插入突变引起的先天性重症肌无力综合征

Szelinger, Szabolcs; Krate, Jonida; Ramsey, Keri; Strom, Samuel P; Shieh, Perry B; Lee, Hane; Belnap, Newell; Balak, Chris; Siniard, Ashley L; Russell, Megan; Richholt, Ryan; Both, Matt De; Claasen, Ana M; Schrauwen, Isabelle; Nelson, Stanley F; Huentelman, Matthew J; Craig, David W; Yang, Samuel P; Moore, Steven A; Sivakumar, Kumaraswamy; Narayanan, Vinodh; Rangasamy, Sampathkumar

Genome-wide association study identifies 30 loci associated with bipolar disorder

全基因组关联研究发现了与双相情感障碍相关的30个基因位点

Stahl, Eli A; Breen, Gerome; Forstner, Andreas J; McQuillin, Andrew; Ripke, Stephan; Trubetskoy, Vassily; Mattheisen, Manuel; Wang, Yunpeng; Coleman, Jonathan R I; Gaspar, Héléna A; de Leeuw, Christiaan A; Steinberg, Stacy; Pavlides, Jennifer M Whitehead; Trzaskowski, Maciej; Byrne, Enda M; Pers, Tune H; Holmans, Peter A; Richards, Alexander L; Abbott, Liam; Agerbo, Esben; Akil, Huda; Albani, Diego; Alliey-Rodriguez, Ney; Als, Thomas D; Anjorin, Adebayo; Antilla, Verneri; Awasthi, Swapnil; Badner, Judith A; Bækvad-Hansen, Marie; Barchas, Jack D; Bass, Nicholas; Bauer, Michael; Belliveau, Richard; Bergen, Sarah E; Pedersen, Carsten Bøcker; Bøen, Erlend; Boks, Marco P; Boocock, James; Budde, Monika; Bunney, William; Burmeister, Margit; Bybjerg-Grauholm, Jonas; Byerley, William; Casas, Miquel; Cerrato, Felecia; Cervantes, Pablo; Chambert, Kimberly; Charney, Alexander W; Chen, Danfeng; Churchhouse, Claire; Clarke, Toni-Kim; Coryell, William; Craig, David W; Cruceanu, Cristiana; Curtis, David; Czerski, Piotr M; Dale, Anders M; de Jong, Simone; Degenhardt, Franziska; Del-Favero, Jurgen; DePaulo, J Raymond; Djurovic, Srdjan; Dobbyn, Amanda L; Dumont, Ashley; Elvsåshagen, Torbjørn; Escott-Price, Valentina; Fan, Chun Chieh; Fischer, Sascha B; Flickinger, Matthew; Foroud, Tatiana M; Forty, Liz; Frank, Josef; Fraser, Christine; Freimer, Nelson B; Frisén, Louise; Gade, Katrin; Gage, Diane; Garnham, Julie; Giambartolomei, Claudia; Pedersen, Marianne Giørtz; Goldstein, Jaqueline; Gordon, Scott D; Gordon-Smith, Katherine; Green, Elaine K; Green, Melissa J; Greenwood, Tiffany A; Grove, Jakob; Guan, Weihua; Guzman-Parra, José; Hamshere, Marian L; Hautzinger, Martin; Heilbronner, Urs; Herms, Stefan; Hipolito, Maria; Hoffmann, Per; Holland, Dominic; Huckins, Laura; Jamain, Stéphane; Johnson, Jessica S; Juréus, Anders; Kandaswamy, Radhika; Karlsson, Robert; Kennedy, James L; Kittel-Schneider, Sarah; Knowles, James A; Kogevinas, Manolis; Koller, Anna C; Kupka, Ralph; Lavebratt, Catharina; Lawrence, Jacob; Lawson, William B; Leber, Markus; Lee, Phil H; Levy, Shawn E; Li, Jun Z; Liu, Chunyu; Lucae, Susanne; Maaser, Anna; MacIntyre, Donald J; Mahon, Pamela B; Maier, Wolfgang; Martinsson, Lina; McCarroll, Steve; McGuffin, Peter; McInnis, Melvin G; McKay, James D; Medeiros, Helena; Medland, Sarah E; Meng, Fan; Milani, Lili; Montgomery, Grant W; Morris, Derek W; Mühleisen, Thomas W; Mullins, Niamh; Nguyen, Hoang; Nievergelt, Caroline M; Adolfsson, Annelie Nordin; Nwulia, Evaristus A; O'Donovan, Claire; Loohuis, Loes M Olde; Ori, Anil P S; Oruc, Lilijana; Ösby, Urban; Perlis, Roy H; Perry, Amy; Pfennig, Andrea; Potash, James B; Purcell, Shaun M; Regeer, Eline J; Reif, Andreas; Reinbold, Céline S; Rice, John P; Rivas, Fabio; Rivera, Margarita; Roussos, Panos; Ruderfer, Douglas M; Ryu, Euijung; Sánchez-Mora, Cristina; Schatzberg, Alan F; Scheftner, William A; Schork, Nicholas J; Shannon Weickert, Cynthia; Shehktman, Tatyana; Shilling, Paul D; Sigurdsson, Engilbert; Slaney, Claire; Smeland, Olav B; Sobell, Janet L; Søholm Hansen, Christine; Spijker, Anne T; St Clair, David; Steffens, Michael; Strauss, John S; Streit, Fabian; Strohmaier, Jana; Szelinger, Szabolcs; Thompson, Robert C; Thorgeirsson, Thorgeir E; Treutlein, Jens; Vedder, Helmut; Wang, Weiqing; Watson, Stanley J; Weickert, Thomas W; Witt, Stephanie H; Xi, Simon; Xu, Wei; Young, Allan H; Zandi, Peter; Zhang, Peng; Zöllner, Sebastian; Adolfsson, Rolf; Agartz, Ingrid; Alda, Martin; Backlund, Lena; Baune, Bernhard T; Bellivier, Frank; Berrettini, Wade H; Biernacka, Joanna M; Blackwood, Douglas H R; Boehnke, Michael; Børglum, Anders D; Corvin, Aiden; Craddock, Nicholas; Daly, Mark J; Dannlowski, Udo; Esko, Tõnu; Etain, Bruno; Frye, Mark; Fullerton, Janice M; Gershon, Elliot S; Gill, Michael; Goes, Fernando; Grigoroiu-Serbanescu, Maria; Hauser, Joanna; Hougaard, David M; Hultman, Christina M; Jones, Ian; Jones, Lisa A; Kahn, René S; Kirov, George; Landén, Mikael; Leboyer, Marion; Lewis, Cathryn M; Li, Qingqin S; Lissowska, Jolanta; Martin, Nicholas G; Mayoral, Fermin; McElroy, Susan L; McIntosh, Andrew M; McMahon, Francis J; Melle, Ingrid; Metspalu, Andres; Mitchell, Philip B; Morken, Gunnar; Mors, Ole; Mortensen, Preben Bo; Müller-Myhsok, Bertram; Myers, Richard M; Neale, Benjamin M; Nimgaonkar, Vishwajit; Nordentoft, Merete; Nöthen, Markus M; O'Donovan, Michael C; Oedegaard, Ketil J; Owen, Michael J; Paciga, Sara A; Pato, Carlos; Pato, Michele T; Posthuma, Danielle; Ramos-Quiroga, Josep Antoni; Ribasés, Marta; Rietschel, Marcella; Rouleau, Guy A; Schalling, Martin; Schofield, Peter R; Schulze, Thomas G; Serretti, Alessandro; Smoller, Jordan W; Stefansson, Hreinn; Stefansson, Kari; Stordal, Eystein; Sullivan, Patrick F; Turecki, Gustavo; Vaaler, Arne E; Vieta, Eduard; Vincent, John B; Werge, Thomas; Nurnberger, John I; Wray, Naomi R; Di Florio, Arianna; Edenberg, Howard J; Cichon, Sven; Ophoff, Roel A; Scott, Laura J; Andreassen, Ole A; Kelsoe, John; Sklar, Pamela