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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy

扩张型心肌病中肌肉特异性核糖体的致病机制

Murphy, Michael R; Ganapathi, Mythily; Rotlevi, Esther R; Lee, Teresa M; Fisher, Joshua M; Patel, Megha V; Jayakar, Parul; Buchanan, Amanda; Rippert, Alyssa L; Ahrens-Nicklas, Rebecca C; Nair, Divya; Nayak, Shalini S; Anand, Aakanksha; Shukla, Anju; Soni, Rajesh K; Yin, Yue; Yang, Feiyue; Garcia, Enrique J; Reilly, Muredach P; Chung, Wendy K; Wu, Xuebing

Effects of GLP-1 Receptor Agonists on Muscle Mass, Strength, and Quality in MASLD: A Systematic Review

GLP-1受体激动剂对MASLD患者肌肉量、力量和质量的影响:系统评价

Iorra, Fernando; Jayakar, Tanya; Yee, Michael; Thursz, Mark R; Schaan, Beatriz D; Manousou, Pinelopi

Outcomes for Sinonasal Undifferentiated Carcinoma (SNUC): An International Multi-Center Retrospective Cohort Study

鼻窦未分化癌(SNUC)的预后:一项国际多中心回顾性队列研究

Liu, Jacklyn; Takahashi, Yoko; Rehman, Umar; Turri-Zanoni, Mario; Mattavelli, Davide; Counsell, Nicholas; Ferrari, Marco; Rampinelli, Vittorio; Vermi, William; Lombardi, Davide; Saade, Rami; Park, Ki Wan; Emanuel, Oscar; Schartinger, Volker H; Franchi, Alessandro; Facco, Carla; Sessa, Fausto; Battocchio, Simonetta; Eriksen, Patrick Rene Gerhard; Bendtsen, Simone Kloch; Kronberg Jakobsen, Kathrine; El Haddouchi, Mohamed; Maragliano, Roberta; Lelkaitis, Giedrius; Saraswathula, Anirudh; Kaur, Raman Preet; Mydlarz, Wojciech K; Ramanathan, Murugappan Jr; Ishii, Masaru; Dave, Manas; Fenton, Tim R; Lim, Alison; Okhovat, Saleh; Elegio, Gyleen; Dupin, Charles; Pouvreau, Pierre; Thariat, Juliette; Digue, Laurence; Ferrand, Francois-Regis; Costes-Martineau, Valerie; Castain, Claire; De Kermadec, Héloïse; Hintze, Justin; O'Neill, James Paul; Lacy, Peter; Vaz, Francis M; O'Flynn, Paul; Howard, David J; Stimpson, Paul; Wang, Simon; Royle, Gary; Steele, Christopher; Jay, Amrita; Carnell, Dawn; Forster, Martin D; Thomson, David; von Buchwald, Christian; Woods, Robbie; Lllorente, Jose Luis; Hermsen, Mario; Jurmeister, Philipp; Capper, David; Gallia, Gary L; Tay, Joshua K; Mohyeldin, Ahmed; Fernandez-Miranda, Juan; Le, Quynh-Thu; West, Robert B; Patel, Zara M; Nayak, Jayakar V; Hwang, Peter H; Facchetti, Fabio; Nicolai, Piero; Ferrarotto, Renata; Phan, Jack; Bossi, Paolo; Castelnuovo, Paolo; Moya-Plana, Antoine; Verillaud, Benjamin; Garnis, Cathie; Thamboo, Andrew; Olawuni, Felicia; Moore, Eric J; Choby, Garret; Lal, Devyani; Akhave, Neal; Bell, Diana; Su, Shirley Y; Lund, Valerie J; London, Nyall R Jr; Hanna, Ehab Y; Lechner, Matt

Added Sinonasal Morbidity of Transpterygoid Approach versus Transsphenoidal Approach: A Case-Controlled Analysis

经翼突入路与经蝶窦入路鼻窦并发症发生率比较:一项病例对照分析

Saroya, Jasmeet; Huang, Alice E; Hooseinzadeh, Farideh; Lee, Christine K; Fernandez-Miranda, Juan; Hwang, Peter H; Patel, Zara M; Nayak, Jayakar V; Chang, Michael T

Multi-omic profiling of human and mouse dorsal root ganglia enables targeted gene delivery to nociceptors

对人和小鼠背根神经节进行多组学分析,可实现向伤害感受器靶向基因递送。

He, Lily S; Bhatia, Parth; Bhuiyan, Shamsuddin A; Semizoglou, Evangelia; Wang, Jiaxiang; Li, Jia; Nam, Joohyun; Luo, Jay X J; Arnhold, Chayse; Zhu, Difei; Xu, Mengyi; Griesemer, Dustin; Yong, Hyo Jeong; Jayne, Lorna; Gilmer, Evangeline; Li, Qiyi; Pantaleo, Katerina; Yang, Lite; Williams, Erika K; Jayakar, Selwyn; Wainger, Brian J; Hrvatin, Sinisa; Renthal, William

Influenza-Associated Acute Necrotizing Encephalopathy in US Children

美国儿童流感相关急性坏死性脑病

Silverman, Andrew; Walsh, Rachel; Santoro, Jonathan D; Thomas, Katherine; Ballinger, Elizabeth; Fisher, Kristen S; Thomas, Ajay X; Appavu, Brian; Kruer, Michael C; Neilson, Derek; Knoll, Jasmine; Sharp, April N; Edelman, Hannah E; Otallah, Scott; Morgan, Alexandra; Grzezulkowska, Aniela; Nguyen, John; Rao, Lekha M; Hecht, Shaina M; Catalano, Laura; Daigle, Hunter; Kronfol, Catherine; Wharton, Jessica; Adams, David; Kalawi, Adam Z; Kung, Michael; Arellano, Janetta L; Smith, Lauren; Segal, Devorah; Feja, Kristina; Broomall, Eileen; Jayakar, Anuj; Arnold, Sandra R; Retallack, Hanna; Press, Craig A; Gombolay, Grace; McLaughlin, Madeleine H; Kannan, Varun; Thakkar, Kavita; Rezwan, Tasmia; Hulfish, Erin; Eid, Dalia; Meylor, Jennifer; Peng, Diane; Hurtado, Ryan; Nickerson, Taylor; Mandell, Iris; Carbonell, Abigail U; Kerner-Rossi, Mallory; Jayaraman, Divya; Davis, Mallory; Olivero, Rosemary; Shah, Neel; Osborne, Christina M; Zhang, Bo; Cortina, Christopher; Randolph, Adrienne G; Rao, Suchitra; LaRocca, Thomas; Van Haren, Keith P; Wilson-Murphy, Molly

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Multi-scaled transcriptomics of chronically inflamed nasal epithelium reveals immune-epithelial dynamics and tissue remodeling in nasal polyp formation.

慢性炎症鼻上皮的多尺度转录组学揭示了鼻息肉形成过程中的免疫上皮动态和组织重塑。

Liao Guanrui, Nakayama Tsuguhisa, Zhu Bokai, Lee Ivan T, Yeung Jason, Yeo Yao Yu, Chang Yuzhou, Wang Cankun, Liao Steven Chun-Kang, Nkosi Dingani, Renteria Axel, Bravo Dawn T, Overdevest Jonathan B, Yan Carol H, Zarabanda David, Gall Philip A, Dholakia Sachi S, Borchard Nicole A, Yang Angela, Kim Dayoung, Patel Zara M, Hwang Peter H, Wagh Dhananjay, Coller John, Phillips Katie M, Chang Michael T, Lechner Matt, Li Zihai, Yeh Te-Huei, Nolan Garry, Longhi Maria Serena, Boussiotis Vassiliki, Barouch Dan H, Ma Qin, Nayak Jayakar V, Jiang Sizun

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J