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

A context-augmented large language model for accurate precision oncology medicine recommendations

基于上下文增强的大型语言模型,用于提供精准的肿瘤医学建议

Jun, Hyeji; Tanaka, Yutaro; Johri, Shreya; Camp, Sabrina Y; Bao, Erik L; Carvalho, Filipe L F; Gui, Dan Y; Jordan, Alexander C; Labaki, Chris; Martin, Samantha D; Nagy, Matthew; O'Meara, Tess A; Pappa, Theodora; Pimenta, Erica Maria; Saad, Eddy; Yang, David D; Gillani, Riaz; Tewari, Alok K; Reardon, Brendan; Van Allen, Eliezer

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Small-Molecule Activation of mRNA Translation by Click-to-Release Reaction in Cells

细胞内通过点击释放反应激活小分子mRNA翻译

Vosman, Tess; Burba, Friedrich; Sumser, Martin; Vrabel, Milan; Mikula, Hannes; Rentmeister, Andrea

Constant trouble with prolines-navigating a global translation dilemma

脯氨酸带来的持续困扰——应对全球翻译难题

Lassak, Jürgen; Stritzel, Jingzhi; Schlundt, Andreas; Brewer, Tess

Laterally spreading AAV.SPR enables safe and efficient RS1 delivery to the macula after peripheral subretinal injection

横向扩散的AAV.SPR可在周边视网膜下注射后安全有效地将RS1递送至黄斑。

Andres-Mateos, Eva; Kozlowski, Christopher; Zhang, Hangning; Fajardo, Diego; Xu, Emily; Enamorado, Ignacio Navas; Calabro, Kaitlyn R; Rayaprolu, Sruti; Havlik, L Patrick; Handy, Tess E; Plummer, Caryn E; Stevenson, Victoria; Rind, Howard; Leahy, Matthew; Boyd, Ryan F; Coleman, Kirsten E; Boye, Sanford L; Boye, Shannon E

A Novel Computational Pipeline for Acquiring Pressure-Volume Hemodynamics of the Right Ventricle in Pulmonary Hypertension

一种用于获取肺动脉高压患者右心室压力-容积血流动力学的新型计算流程

Moon, Gyeongtae S; Scheel, Paul J 3rd; Montovano, Maggie; Kaushik, Milan; Buchanan, Cole; Friedman, Samuel H; Vanderpool, Rebecca; Allan, Tess; Aslam, M Imran; Tedford, Ryan J; Mukherjee, Monica; Hassoun, Paul M; Jani, Vivek P; Hsu, Steven

Chemosynthesis enables microbial communities to flourish in a marine cave ecosystem

化能合成作用使微生物群落能够在海洋洞穴生态系统中繁衍生息。

Ricci, Francesco; Hutchinson, Tess; Leung, Pok Man; Nguyen-Dinh, Thanh; Zeng, Jialing; Jirapanjawat, Thanavit; Eate, Vera; Wong, Wei Wen; Cook, Perran L M; Greening, Chris

Selinexor and Venetoclax Combination in Patients With Relapsed or Refractory Acute Myeloid Leukemia

塞利尼索和维奈托克联合治疗复发或难治性急性髓系白血病患者

Ball, Somedeb; Awan, Farrukh T; Tomlinson, Ben K; Stopczynski, Tess; Fischer, Melissa A; Zhao, Zhiguo; Fedorov, Kateryna; Kishtagari, Ashwin; Mohan, Sanjay R; Ayers, Gregory D; Byrne, Michael T; Savona, Michael R

Variant-resolved prediction of context-specific isoform variation with a graph-based attention model

基于图注意力模型的变体解析预测上下文特异性异构体变异

Litman, Aviya; Pan, Zhicheng; Sokolova, Ksenia; Fang, Joyce; Marvin, Tess; Sauerwald, Natalie; Park, Christopher Y; Theesfeld, Chandra L; Troyanskaya, Olga G