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

A patient with newly diagnosed breast cancer found to have mosaic TP53 likely pathogenic variant

一名新确诊乳腺癌的患者被发现携带TP53嵌合型可能致病变异。

Mistry, Hetal D; Adams, MacKenzie R; Taneja, Charu; Massingham, Lauren J; Dibble, Elizabeth H; Leonard, Kara L; Hart, Jesse; Lagos, Galina G; Fenton, Mary Anne

Advances in the noninvasive diagnosis of melanoma-40 years beyond the ABCDs

黑色素瘤无创诊断的进展——ABCD 疗法问世 40 年后

Burshtein, Joshua; Witkowski, Alexander; Zakria, Danny; Shah, Milaan; Rosenberg, Angela; DeBusk, Lauren; Ludzik, Joanna; Pellacani, Giovanni; Rigel, Darrell

Multi-omics analysis of a pig-to-human decedent kidney xenotransplant

对猪肾移植到人体内的多组学分析

Eloi Schmauch #,Brian D Piening #,Alexa K Dowdell,Maedeh Mohebnasab,Simon H Williams,Alexey Stukalov,Fred L Robinson,Robin Bombardi,Ian Jaffe,Karen Khalil,Jacqueline Kim,Imad Aljabban,Tal Eitan,Darragh P O'Brien,Mercy Rophina,Chan Wang,Alexandra Q Bartlett,Francesca Zanoni,Jon Albay,David Andrijevic,Berk Maden,Vincent Mauduit,Susanna Vikman,Diana Argibay,Zasha Zayas,Leah Wu,Kiana Moi,Billy Lau,Weimin Zhang,Loren Gragert,Elaina Weldon,Hui Gao,Lauren Hamilton,Larisa Kagermazova,Brendan R Camellato,Divya Gandla,Riyana Bhatt,Sarah Gao,Rudaynah A Al-Ali,Alawi H Habara,Andrew Chang,Shadi Ferdosi,Han M Chen,Jennifer D Motter,Scott C Thomas,Deepak Saxena,Robert L Fairchild,Alexandre Loupy,Adriana Heguy,Ali Crawford,Serafim Batzoglou,Michael P Snyder,Asim Siddiqui,Michael V Holmes,Anita S Chong,Minna U Kaikkonen,Suvi Linna-Kuosmanen,David Ayares,Marc Lorber,Anoma Nellore,Edward Y Skolnik,Aprajita Mattoo,Vasishta S Tatapudi,Ryan Taft,Massimo Mangiola,Qian Guo,Ramin S Herati,Jeffrey Stern,Adam Griesemer,Manolis Kellis,Jef D Boeke,Robert A Montgomery,Brendan J Keating

GlycoRNA complexed with heparan sulfate regulates VEGF-A signalling.

糖RNA与硫酸乙酰肝素复合物调节VEGF-A信号传导。

Chai Peiyuan, Kheiri Sina, Kuo Andrew, Shah Jessica, Kageler Lauren, Ge Ruiqi, Perr Jonathan, Porat Jennifer, Lebedenko Charlotta G, Dias Joao M L, Yankova Eliza, Rai Sandeep K, Watkins Christopher P, Hristov Petar, Tzelepis Konstantinos, Hla Timothy, Raman Ritu, Calo Eliezer, Esko Jeffrey D, Flynn Ryan A

Multiple myeloma risk linked to DNA damage response genes

多发性骨髓瘤风险与DNA损伤反应基因相关

Conry, Michael; Ostrovnaya, Irina; Kemel, Yelena; Sinha, Saloni; Baughn, Linda B; Avery, Brian; Maclachlan, Kylee; Groner, Victoria; Banaszak, Lauren; Norman, Aaron; Boddicker, Nicholas J; Clay-Gilmour, Alyssa; Kumar, Shaji; Kim, Ellen; Dandiker, Sita; Waghmare, Mitul; Slager, Susan; Sborov, Douglas W; Garber, Judy; Brown, Elizabeth E; Hildebrandt, Michelle; Hari, Parameshwaran; Camp, Nicola; Vachon, Celine; Usmani, Saad; Offit, Kenneth; Joseph, Vijai

Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases

全球多族裔全基因组分析鉴定出与甲状腺癌和良性甲状腺疾病相关的基因和生物学通路

White, Samantha L; Brasher, Maizy S; Pattee, Jack; Zhou, Wei; Chapman, Sinéad; Jee, Yon Ho; Bell, Caitlin C; Jamil, Taylor L; Barrio, Martin; Arehart, Christopher H; Evans, Luke M; Hirbo, Jibril; Cox, Nancy J; Straub, Peter; Namba, Shinichi; Bertucci-Richter, Emily; Guare, Lindsay; Edris, Ahmed; Morris, Sam; Mulford, Ashley J; Zhang, Haoyu; Fennessy, Brian; Tobin, Martin D; Chen, Jing; Williams, Alexander T; John, Catherine; van Heel, David A; Mathur, Rohini; Finer, Sarah; Moksnes, Marta R; Brumpton, Ben M; Åsvold, Bjørn Olav; Peculis, Raitis; Rovite, Vita; Konrade, Ilze; Wang, Ying; Crooks, Kristy; Chavan, Sameer; Fisher, Matthew J; Rafaels, Nicholas; Lin, Meng; Shortt, Jonathan A; Sanders, Alan R; Whiteman, David C; MacGregor, Stuart; Medland, Sarah E; Thorsteinsdóttir, Unnur; Stefánsson, Kári; Karaderi, Tugce; Egan, Kathleen M; Bocklage, Therese; McCrary, Hilary C; Riedlinger, Gregory; Salhia, Bodour; Shriver, Craig; Phan, Minh D; Farlow, Janice L; Edge, Stephen; Kaur, Varinder; Churchman, Michelle L; Rounbehler, Robert J; Brock, Pamela L; Ringel, Matthew D; Pividori, Milton; Schweppe, Rebecca; Raeburn, Christopher D; Walters, Robin G; Chen, Zhengming; Li, Liming; Matsuda, Koichi; Okada, Yukinori; Zöllner, Sebastian; Verma, Anurag; Preuss, Michael H; Kenny, Eimear; Hendricks, Audrey E; Fishbein, Lauren; Kraft, Peter; Daly, Mark J; Neale, Benjamin M; Martin, Alicia R; Cole, Joanne B; Haugen, Bryan R; Gignoux, Christopher R; Pozdeyev, Nikita

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.

主动脉狭窄的基因组学和转录组学分析有助于发现治疗靶点和预测疾病。

Small Aeron M, Yang Ta-Yu, Itoh Shinsuke, Thériault Sébastien, Dufresne Line, Kurosawa Ryo, Komuro Issei, Matsuda Koichi, Vy Ha My T, Farber-Eger Eric H, Shaffer Lauren Lee, Boulier Kristin M, Corey Kristin M, Ramaker Megan E, Laporte Fabien, Schott Jean-Jacques, Le Scouarnec Solena, Singh Sasha A, Sonawane Abhijeet R, Smith Harry A, Rafaels Nicholas, Ghouse Jonas, Raja Anna A, Ostrowski Sisse R, Sørensen Erik, Mikkelsen Christina, Pedersen Ole B, Erikstrup Christian, Ullum Henrik, Sveinbjornsson Gardar, Gudbjartsson Daniel F, Abner Erik, Lee Jiwoo, Ganna Andrea, Nowak-Göttl Ulrike, Finer Sarah, Schumacher Johannes, Maj Carlo, Al-Kassou Baravan, Nickenig Georg, Trenkwalder Teresa, Dreβen Martina, Krane Markus, Nöthen Markus M, Moksnes Marta R, Brumpton Ben M, Knight Stacey, Knowlton Kirk U, Nadauld Lincoln, Debiec Radek, Musameh Muntaser D, Braund Peter S, Nelson Christopher P, Czuba Tomasz, Melander Olle, Selvaraj Margaret Sunitha, Koyama Satoshi, Bhukar Rohan, Ruan Yunfeng, Ljungberg Johan, Damrauer Scott M, Levin Michael G, Franke Andre, Berger Klaus, Ruff Christian T, Melloni Giorgio E M, Kamanu Frederick K, Ito Kaoru, Do Ron, Loos Ruth J F, Schunkert Heribert, Wells Quinn S, Shah Svati H, Le Tourneau Thierry, Messika-Zeitoun David, Gignoux Christopher, Bundgaard Henning, Larsson Susanna C, Michaëlsson Karl, Holm Hilma, Helgadottir Anna, Esko Tonu, van Heel David A, Mathieu Patrick, Samani Nilesh J, Smith J Gustav, Söderberg Stefan, Rader Daniel J, Marston Nicholas A, Sabatine Marc S, Pasaniuc Bogdan, Cho Kelly, Wilson Peter W F, O'Donnell Christopher J, Stefansson Kari, Bossé Yohan, Aikawa Elena, Engert James C, Peloso Gina M, Natarajan Pradeep, Thanassoulis George

Generative Models for Crystalline Materials

晶体材料的生成模型

Metni, Houssam; Ruple, Laura; Walters, Lauren N; Torresi, Luca; Teufel, Jonas; Schopmans, Henrik; Östreicher, Jona; Zhang, Yumeng; Neubert, Marlen; Koide, Yuri; Steiner, Kevin; Link, Paul; Bär, Lukas; Petrova, Mariana; Ceder, Gerbrand; Friederich, Pascal

Accuracy of Self-Selection for Medication Abortion Using a Prototype Drug Facts Label

使用原型药品说明书评估药物流产自我选择的准确性

Ralph, Lauren J; Baba, C Finley; Ehrenreich, Katherine; Morris, Natalie; Biggs, M Antonia; Blanchard, Kelly; Hernández, Emma; Kapp, Nathalie; Kromenaker, Tammi; Perritt, Jamila; Raymond, Elizabeth; White, Kari; Grossman, Daniel