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

Deleterious coding variation associated with autism is shared across ancestries

与自闭症相关的有害编码变异在不同祖先群体中是共通的。

Natividad Avila, Marina; Jung, Seulgi; Satterstrom, F Kyle; Fu, Jack M; Levy, Tess; Sloofman, Laura G; Klei, Lambertus; Pichardo, Thariana; Marquez, Dalia; Stevens, Christine R; Cusick, Caroline M; Ames, Jennifer L; Campos, Gabriele S; Cerros, Hilda; Chaskel, Roberto; Costa, Claudia I S; Cuccaro, Michael L; Lopez, Andrea Del Pilar; Fernandez, Magdalena; Ferro, Eugenio; Galeano, Liliana; Girardi, Ana Cristina D E S; Griswold, Anthony J; Hernandez, Luis C; Lourenço, Naila; Ludena, Yunin; Núñez-Ríos, Diana; Oyama, Rosa; Peña, Katherine P; Pessah, Isaac; Schmidt, Rebecca; Sweeney, Holly M; Tolentino, Lizbeth; Wang, Jaqueline Y T; Albores-Gallo, Lilia; Croen, Lisa A; Cruz-Fuentes, Carlos S; Hertz-Picciotto, Irva; Kolevzon, Alexander; Lattig, Maria Claudia; Mayo, Liliana; Passos-Bueno, Maria Rita; Pericak-Vance, Margaret A; Siper, Paige M; Tassone, Flora; Trelles, M Pilar; Talkowski, Michael E; Daly, Mark J; Mahjani, Behrang; De Rubeis, Silvia; Cook, Edwin H; Roeder, Kathryn; Betancur, Catalina; Devlin, Bernie; Buxbaum, Joseph D

High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial

高剂量诺西那生治疗脊髓性肌萎缩症:一项3期随机试验

Finkel, Richard S; Crawford, Thomas O; Mercuri, Eugenio; Sumner, Charlotte J; Garcia Romero, Maria Del Mar; Day, John W; Montes, Jacqueline; Sun, Peng; Tichler, Ben; Paradis, Angela D; Boesch, Emily; Inra, Jennifer; Littauer, Ross; Sohn, Jihee; Monine, Michael; Gambino, Giulia; Foster, Richard; Farewell, Raechel; Fradette, Stephanie

A quantitative DOPA decarboxylase biomarker for diagnosis in Lewy body disorders

用于路易体病诊断的定量多巴脱羧酶生物标志物

Bolsewig, Katharina; Bellomo, Giovanni; Hok-A-Hin, Yanaika S; Al Idrissi, Imane; Vermunt, Lisa; Lleó, Alberto; Alcolea, Daniel; Sieben, Anne; Engelborghs, Sebastiaan; Simonsen, Anja Hviid; Hasselbalch, Steen G; Bech, Sara; Morrema, Tjado H J; Hoozemans, Jeroen J M; Bol, John G J M; van Alphen, Juliette; Gaetani, Lorenzo; Chiasserini, Davide; Paolini Paoletti, Federico; Parnetti, Lucilla; Kang, Sungwoo; Lee, Young-Gun; Jeon, Suhee; Lee, Ahreum; Jeon, Seun; Ye, Byoung Seok; Del Campo Milán, Marta; van der Flier, Wiesje M; van de Berg, Wilma D J; Lemstra, Afina W; Willemse, Eline A J; Teunissen, Charlotte E

Humoral IgG1 responses to tumor antigens underpin clinical outcomes in immune checkpoint blockade

针对肿瘤抗原的体液IgG1反应是免疫检查点阻断疗法临床疗效的基础

Gonzalez-Kozlova, Edgar; Sweeney, Robert; Figueiredo, Igor; Tuballes, Kevin; Ozbey, Sinem; Hamon, Pauline; Park, Matthew D; Ioannou, Giorgio; Nose, Yohei; Guo, Ruiwei; Restrepo, Paula; Buckup, Mark; Roudko, Vladimir; Hennequin, Clotilde; Le Berichel, Jessica; Venturini, Nicholas; Halasz, Laszlo; Troncoso, Leanna; Tabachnikova, Alexandra; Chang, Christie; Reid, Amanda; Brown, Haley; Chin, Theodore; Cabal, Rafael; Mattiuz, Raphaël; Eikawa, Shingo; Del Valle, Diane Marie; Gonsalves, Tina Ruth; LaMarche, Nelson M; Jamal, Hajra; Lansky, Alona; Yi, Nancy; Nelson, Daniella; Morgenroth-Rebin, Jarod; Merand, Raphael; Villagomez, Bryan; D'Souza, Darwin; Radkevich, Emir; Nie, Kai; Chen, Zhihong; Tada, Yasuko; Nishikawa, Hiroyoshi; Ward, Stephen C; Fiel, Maria Isabel; Brody, Rachel; Tabrizian, Parissa; Gunasekaran, Ganesh; Kamphorst, Alice O; Cohen, Noah; Curotto de Lafaille, Maria; Hapanowicz, Olivia; Lucas, Natalie; Wu, Kathy; James, Nicola; Lin, John C; Thurston, Gavin; Schwartz, Myron; Fiaschi, Nathalie; Kim-Schulze, Seunghee; Merad, Miriam; Marron, Thomas U; Gnjatic, Sacha

Gene-drive-capable mosquitoes suppress patient-derived malaria in Tanzania

基因驱动蚊子在坦桑尼亚抑制了由患者传染的疟疾

Habtewold, Tibebu; Lwetoijera, Dickson Wilson; Hoermann, Astrid; Mashauri, Rajabu; Matwewe, Fatuma; Mwanga, Rehema; Kweyamba, Prisca; Maganga, Gilbert; Magani, Beatrice Philip; Mtama, Rachel; Mahonje, Moze Ally; Tambwe, Mgeni Mohamed; Tarimo, Felista; Chennuri, Pratima R; Cai, Julia A; Del Corsano, Giuseppe; Capriotti, Paolo; Sasse, Peter; Moore, Jason; Hudson, Douglas; Manjurano, Alphaxard; Tarimo, Brian; Vlachou, Dina; Moore, Sarah; Windbichler, Nikolai; Christophides, George K

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes

对英国生物银行470,727个基因组中的拷贝数变异进行全表型组分析

Zou, Xueqing Zoe; Hu, Fengyuan; Lou, Haiyi; Burren, Oliver S; Li, Xiaoyin; Megy, Karyn; Wheeler, Eleanor; Wu, Qiang; Atanur, Santosh S; Karpinski, Marcin; Loesch, Douglas; Fairhurst-Hunter, Zammy; Deevi, Sri V V; Oerton, Erin; Wen, Sean; Jiang, Xiao; Salvoro, Cecilia; Mitchell, Jonathan; Nag, Abhishek; Hollis, Ben; O'Neill, Amanda; Harrow, Jen; MacArthur, Stewart; Wasilewski, Sebastian; O'Dell, Sean; Tian, Lifeng; Smith, Katherine R; Del Angel, Guillermo; Fabre, Margarete; Dhindsa, Ryan S; Wang, Quanli; Petrovski, Slavé; Carss, Keren

Author Correction: Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes

作者更正:对英国生物银行470,727个基因组中的拷贝数变异进行全表型分析

Zou, Xueqing Zoe; Hu, Fengyuan; Lou, Haiyi; Burren, Oliver S; Li, Xiaoyin; Megy, Karyn; Wheeler, Eleanor; Wu, Qiang; Atanur, Santosh S; Karpinski, Marcin; Loesch, Douglas; Fairhurst-Hunter, Zammy; Deevi, Sri V V; Oerton, Erin; Wen, Sean; Jiang, Xiao; Salvoro, Cecilia; Mitchell, Jonathan; Nag, Abhishek; Hollis, Ben; O'Neill, Amanda; Harrow, Jen; MacArthur, Stewart; Wasilewski, Sebastian; O'Dell, Sean; Tian, Lifeng; Smith, Katherine R; Del Angel, Guillermo; Fabre, Margarete; Dhindsa, Ryan S; Wang, Quanli; Petrovski, Slavé; Carss, Keren

Eight millennia of continuity of a previously unknown lineage in Argentina

阿根廷一条此前不为人知的血统延续了八千年之久

Maravall-López, Javier; Motti, Josefina M B; Pastor, Nicolás; Tavella, María Pía; Fabra, Mariana; Babot, Pilar; Bonomo, Mariano; Cornero, Silvia E; Lamenza, Guillermo N; Leon, Diego Catriel; Miranda de Zela, Paula C; Politis, Gustavo G; Angeletti, Sofía C; Cattáneo, G Roxana; Dantas, Mariana; Drube, Hilton; Gonzalez Baroni, Lucia G; Hocsman, Salomón; Izeta, Andrés D; Moralejo, Reinaldo A; Aldazabal, Verónica; Basso, Diego M; Bayón, Cristina; Couso, María Guillermina; D'Andrea, Ulises; Del Río, Paula; Figueroa, Germán G; Frontini, Romina; Gonzalez, Mariela Edith; Laguens, Andrés G; Martínez, Jorge G; Messineo, Pablo G; Nores, Beatriz; Olivera, Daniel E; Sario, Gisela M; Sbattella, Analía; Scabuzzo, Clara; Tavarone, Aldana M; Vecchi, Rodrigo; Callan, Kim; Caughran, Ella; Estrada, Oscar; Frost, Trudi; Iliev, Lora; Kearns, Aisling; Kellogg, Jack; Krettek, Kim-Louise; Lawson, Ann Marie; Mah, Matthew; Manjila, Nihal; Micco, Adam; Patterson, Iris; Qiu, Lijun; Roca-Rada, Xavier; Soos, Gregory; Webb, Peter A; Workman, J Noah; Rohland, Nadin; Patterson, Nick; Lazaridis, Iosif; Fehren-Schmitz, Lars; Posth, Cosimo; Llamas, Bastien; Mallick, Swapan; Demarchi, Darío A; Cabana, Graciela S; Reich, David; Nores, Rodrigo

Ancestry and somatic profile indicate acral melanoma origin and prognosis

祖先和体细胞特征提示肢端黑色素瘤的起源和预后

Basurto-Lozada, Patricia; Vázquez-Cruz, Martha Estefania; Molina-Aguilar, Christian; Jiang, Amanda; Deacon, Dekker C; Cerrato-Izaguirre, Dennis; Simonin-Wilmer, Irving; Arriaga-González, Fernanda G; Contreras-Ramírez, Kenya L; Ferro-Rodríguez, Emiliano; Billington, Jamie; Dawson, Eric T; Wong-Ramirez, J Rene C; Ramos-Galguera, Johana Itzel; Álvarez-Cano, Alethia; García-Ortega, Dorian Y; García-Salinas, O Isaac; Hidalgo-Miranda, Alfredo; Cisneros-Villanueva, Mireya; Johansson, Peter A; Martínez-Said, Héctor; Gallego-García, Pilar; Arends, Mark J; Ferreira, Ingrid; Tullett, Mark; Olvera-León, Rebeca; van der Weyden, Louise; Del Castillo Velasco-Herrera, Martín; Roldán-Marín, Rodrigo; Vidaurri de la Cruz, Helena; Tavares-de-la-Paz, Luis Alberto; Hinojosa-Ugarte, Diego; Belote, Rachel L; Bishop, D Timothy; Díaz-Gay, Marcos; Alexandrov, Ludmil B; Sánchez-Pérez, Yesennia; In, Gino K; White, Richard M; Possik, Patrícia A; Judson-Torres, Robert L; Adams, David J; Robles-Espinoza, Carla Daniela

Activated ATF6α is a hepatic tumour driver restricting immunosurveillance.

活化的 ATF6α 是肝肿瘤的驱动因子,可限制免疫监视。

Li Xin, Lebeaupin Cynthia, Kadianaki Aikaterini, Druelle-Cedano Clementine, Vesper Niklas, Rennert Charlotte, Huguet-Pradell Júlia, Gomez Ramos Borja, Fan Chaofan, Piecyk Robert Stefan, Zizmare Laimdota, Ramadori Pierluigi, Li Luqing, Frick Lukas, Qiu Menjie, Zhang Cangang, Martins Nascentes Melo Luiza, Ranvir Vikas Prakash, Shen Peng, Hanselmann Johannes, Kosla Jan, Fernández-Vaquero Mirian, Vucur Mihael, Baskaran Praveen, Bao Xuanwen, Coleman Olivia I, Tang Yingyue, Cetin Miray, Chen Zhouji, Jang Insook, Del Prete Stefania, Rahbari Mohammad, Zhang Peng, Pham Timothy V, Hou Yushan, Sun Aihua, Gu Li, Kim Laura C, Rothermel Ulrike, Heide Danijela, Ali Adnan, Gallage Suchira, Talvard-Balland Nana, Piqué-Gili Marta, Gris-Oliver Albert, Bevilacqua Alessio, Schlicker Lisa, Duffey Alec, Unger Kristian, Szydlowska Marta, Hetzer Jenny, Odom Duncan T, Machauer Tim, Bucci Daniele, Sant Pooja, Lee Jun-Hoe, Rösler Jonas, Meckelmann Sven W, Schreck Johannes, Murray Sue, Simon M Celeste, Nahnsen Sven, Schulze Almut, Ho Ping-Chih, Jugold Manfred, Breuhahn Kai, Mallm Jan-Philipp, Schirmacher Peter, Roth Susanne, Rahbari Nuh, Tschaharganeh Darjus F, Roessler Stephanie, Goeppert Benjamin, Bengsch Bertram, Andrieux Geoffroy, Boerries Melanie, Malek Nisar P, Prinz Marco, Weber Achim, Zeiser Robert, Tamayo Pablo, Bronsert Peter, Kurowski Konrad, Thimme Robert, Yuan Detian, Carretero Rafael, Luedde Tom, Pinyol Roser, Hartmann Felix J, Karin Michael, Tasdogan Alpaslan, Trautwein Christoph, Mall Moritz, Hofmann Maike, Llovet Josep M, Haller Dirk, Kaufman Randal J, Heikenwälder Mathias