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

Developmental convergence and divergence in human stem cell models of autism.

自闭症人类干细胞模型的发育趋同与分化。

Gordon Aaron, Yoon Se-Jin, Bicks Lucy K, Martín Jacqueline M, Pintacuda Greta, Arteaga Stephanie, Wamsley Brie, Guo Qiuyu, Elahi Lubayna, Dolmetsch Ricardo E, Bernstein Jonathan A, O'Hara Ruth, Hallmayer Joachim F, Lage Kasper, Pasca Sergiu P, Geschwind Daniel H

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

RNU2-2基因的双等位基因变异会导致最常见的已知隐性遗传性神经发育障碍。

Greene, Daniel; Mendez, Rodrigo; Lees, Jon; Barbosa, Mafalda; Bruselles, Alessandro; Chiriatti, Luigi; Ferraro, Federico; Mancini, Cecilia; Schot, Rachel; Sleutels, Frank; Bertini, Enrico; Bonner, Devon E; Bouman, Arjan; Brooks, Alice S; Cassini, Thomas A; Ezell, Kimberly M; Gomez-Ospina, Natalia; Kleefstra, Tjitske; O'Donoghue, Michael; Rives, Lynette; Shashi, Vandana; Spillmann, Rebecca C; Wafik, Mohamed; Freson, Kathleen; Barakat, Tahsin Stefan; Tartaglia, Marco; Bernstein, Jonathan A; Mumford, Andrew D; Wheeler, Matthew T; Turro, Ernest

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

Genetic Diagnosis and Discovery Enabled by Large Language Models

大型语言模型助力基因诊断与发现

Tu, Tao; Saab, Khaled; Liu, Weida; Fang, Zhouqing; Cheng, Zhuanfen; Spasic, Svetolik; Djurisic, Maja; Mohri, Hiroaki; Ren, Wenlong; Palepu, Anil; Gottweis, Juraj; Karthikesalingam, Alan; Kulkarni, Kavita; Pawlosky, Annalisa; Bonner, Devon; Kravets, Elijah; Marwaha, Shruti; Mendez, Hector R; Wheeler, Matthew T; Bernstein, Jonathan A; Tsai, Cheng-Yu; Wu, Chen-Chi; Stankovic, Konstantina M; Natarajan, Vivek; Peltz, Gary

The Prevalence of Symptomatic Dermographism: Results of the International UCARE PREVALENCE-D Study

症状性皮肤划痕症的患病率:国际UCARE PREVALENCE-D研究结果

Kulthanan, Kanokvalai; Bernstein, Jonathan A; Rudenko, Michael; Salameh, Pascale; Komoltri, Chulaluk; Adışen, Esra; Al Abri, Salma; Al-Ahmad, Mona; Al-Ahmed, Nasser; Al Hinai, Bushra; Allenova, Anastasiia; Alshareef, Saad; Angkoolpakdeekul, Nattha; Arnaout, Rand; Bartosińska, Joanna; Cherrez-Ojeda, Ivan; Chularojanamontri, Leena; Criado, Paulo Ricardo; Ensina, Luis Felipe; Criado, Roberta Fachini Jardim; Calle, Cesar Alberto Galvan; Giménez-Arnau, Ana Maria; Godse, Kiran; Gotua, Maia; Inomata, Naoko; Jantanapornchai, Nuttagarn; Jung, Chang-Gyu; Kasperska-Zając, Alicja; Khoshkhui, Maryam; Kolkhir, Pavel; Krasowska, Dorota; Laomoleethorn, Jomgriditip; Maiorowa, Antonina; Meshkova, Raisa; Mijakoski, Dragan; Munoz, Melba; Nanchaipruek, Yanisorn; Nasr, Iman; Kara, Rabia Öztaş; Panjapakkul, Waratchaya; Paringkarn, Teerapat; Podder, Indrashis; Robles-Velasco, Karla; Rosmaninho, Isabel; Presa, Ana Rita; Rujitharanawong, Chuda; Saengthong-Aram, Phuwakorn; Tafrishi, Rana; Mitrevska, Natasa Teovska; Tuchinda, Papapit; Wannawittayapa, Teerapat; Wilson, Anushka; Ye, Young-Min; Zalewska-Janowska, Anna; Maurer, Marcus; Zuberbier, Torsten

Methodology for the Development of the Allergic Rhinitis and Its Impact on Asthma (ARIA)-EAACI 2024-2025 Guidelines: From Evidence-to-Decision Frameworks to Digitalised Shared Decision-Making Algorithms

过敏性鼻炎及其对哮喘的影响(ARIA)-EAACI 2024-2025 指南制定方法:从循证决策框架到数字化共享决策算法

Bousquet, Jean; Sousa-Pinto, Bernardo; Vieira, Rafael José; Schünemann, Holger J; Zuberbier, Torsten; Bognanni, Antonio; Togias, Alkis; Samolinski, Boleslaw; Valiulis, Arunas; Williams, Sian; Bedbrook, Anna; Czarlewski, Wienczyslawa; Torres, Maria Jose; Shamji, Mohamed H; Morais-Almeida, Mário; Canonica, G Walter; Vecillas, Leticia de Las; Dykewicz, Mark S; Jacomelli, Cristina; Klimek, Ludger; Leemann, Lucas; Lourenço, Olga; Palamarchuk, Yuliia; Papadopoulos, Nikolaos G; Pereira, Ana Margarida; Savouré, Marine; Toppila-Salmi, Sanna K; Ventura, Maria Teresa; Yepes-Nuñez, Juan Jose; Cruz, Alvaro A; Ciprandi, Giorgio; Gemicioglu, Bilun; Giovannini, Mattia; Gradauskiene, Brigita; Jartti, Tuomas; Jeseňák, Miloš; Kuna, Piotr; Kvedariene, Violeta; Larenas-Linnemann, Désirée E; Latiff, Amir H A; Mohammad, Yousser; Ohta, Ken; Mahesh, Padukudru A; Pali-Schöll, Isabella; Pfaar, Oliver; Regateiro, Frederico S; Roche, Nicolas; Sofiev, Mikhail; Taborda-Barata, Luís; Ulrik, Charlotte Suppli; Rostan, Marylin Valentin; Viegi, Giovanni; Zhang, Luo; Antó, Josep M; Haahtela, Tari; Cherrez-Ojeda, Ivan; Ivancevich, Juan Carlos; Khaltaev, Nikolai; Yorgancioglu, Arzu; Abdullah, Baharudin; Al-Ahmad, Mona; Al-Nesf, Maryam Ali; Amaral, Rita; Asllani, Julijana; Bergmann, Karl-C; Bernstein, Jonathan A; Blaiss, Michael S; Braido, Fulvio; Camargos, Paulo; Carreiro-Martins, Pedro; Casale, Thomas; Cecchi, Lorenzo; Fiocchi, Alessandro G; Giuliano, Antonio F M; Christoff, George; Cirule, Ieva; Correia-de-Sousa, Jaime; Costa, Elisio M; Del Giacco, Stefano; Devillier, Philippe; Dokic, Dejan; Hossny, Elham; Iinuma, Tomohisa; Irani, Carla; Ispayeva, Zhanat; Julge, Kaja; Kaidashev, Igor; Bennoor, Kazi S; Kraxner, Helga; Kull, Inger; Kulus, Marek; Kupczyk, Maciej; Kurchenko, Andriy; La Grutta, Stefania; Miculinic, Neven; Tuyet, Lan Le Thi; Makris, Michael; Milenkovic, Branislava; Lee, Sang Min; Montefort, Stephen; Moreira, André; Mullol, Joaquim; Nadif, Rachel; Nakonechna, Alla; Neffen, Hugo E; Niedoszytko, Marek; Nyembue, Dieudonné; O'Hehir, Robyn; Ogulur, Ismail; Okamoto, Yoshitaka; Olze, Heidi; Palomares, Oscar; Panzner, Petr; Patella, Vincenzo; Pawankar, Ruby; Pitsios, Constantinos; Popov, Todor A; Puggioni, Francesca; Quirce, Santiago; Ramonaité, Agné; Recto, Marysia; Repka-Ramirez, Maria Susana; Roberts, Graham; Robles-Velasco, Karla; Rottem, Menachem; Salapatas, Marianella; Sastre, Joaquin; Scichilone, Nicola; Sisul, Juan Carlos; Solé, Dirceu; Soto-Martinez, Manuel E; Sova, Milan; Tantilipikorn, Pongsakorn; Todo-Bom, Ana; Tsaryk, Vladyslav; Tsiligianni, Ioanna; Urrutia-Pereira, Marilyn; Valovirta, Erkka; Van Ganse, Eric; Vasankari, Tuula; Wallace, Dana; Wang, De Yun; Worm, Margitta; Yusuf, Osman M; Zidarn, Mihaela; Gil-Mata, Sara; Marques-Cruz, Manuel; Mahboub, Bassam; Ansotegui, Ignacio J; Romano, Antonino; Artesani, Maria Cristina; Barreto, Bruno; Becker, Sven; Beghe, Bianca; Bouchard, Jacques; Bourgoin-Heck, Melisande; Brussino, Luisa; Buhl, Roland; Calvo-Gil, Mario; Dahl, Victoria Cardona; Vizuete, José Antonio Castillo; Charpin, Denis; Chavannes, Niels H; Chełmińska, Marta; Cheng, Lei; Chkhartishvili, Ekaterine; Chong-Neto, Herberto Jose; Choudhury, Deepa; Chu, Derek; Cingi, Cemal; Compalati, Enrico; Cvetkovski, Biljana; Da Silva, Jane; D'Amato, Gennaro; Davies, Janet; Di Bona, Danilo; Dimou, Maria V; Teixeira, Maria Do Ceu; Doulaptsi, Maria; Pérez, José Miguel Fuentes; Gawlik, Radoslaw; Goksel, Ozlem; Gómez, Maximiliano R; Gonzalez Diaz, Sandra N; Gotua, Maia; Grigoreas, Christos; Grisle, Ineta; Guzman, Maria Antonieta; Tan, Rachel House; Hyland, Michael; Ierodiakonou, Despo; Karavelia, Aspasia; Kisiel, Marta; Kosnik, Mitja; Kritikos, Vicky; Lombardi, Carlo; Martini, Matteo; Meço, Cem; Mesonjesi, Eris; Mihaltan, Florin; Moniuszko, Marcin; Naclerio, Robert; Neisinger, Sophia; Ordak, Michal; Paoletti, Giovanni; Perdomo-Flores, Edgar Arturo; Pham-Thi, Nhan; Prokopakis, Emmanuel; Yeverino, Daniela Rivero; Rolla, Giovanni; Romantowski, Jan; Rouadi, Philip W; Rukhadze, Maia; Sakurai, Daiju; Salameh, Laila; Sarquis, Faradiba Serpa; Kosak, Tanja Soklic; Soyka, Michael; Sozinova, Olga; Specjalski, Krzysztof; Tomic-Spiric, Vesna; Vachova, Martina; van Hage, Marianne; Koyuncu, Ilgim Vardaloglu; Vichyanond, Pakit; Wagenmann, Martin; Ko, Fanny Wai San; Werminghaus, Pascal; Xepapadaki, Vicky Paraskevi; Xiang, Yi-Kui; Fonseca, João A

Allergic Rhinitis and Its Impact on Asthma (ARIA)-EAACI Guidelines-2024-2025 Revision: Part I-Guidelines on Intranasal Treatments

过敏性鼻炎及其对哮喘的影响(ARIA)-EAACI 指南-2024-2025 修订版:第一部分-鼻内治疗指南

Sousa-Pinto, Bernardo; Bousquet, Jean; Vieira, Rafael José; Schünemann, Holger J; Zuberbier, Torsten; Bognanni, Antonio; Togias, Alkis; Samolinski, Boleslaw; Valiulis, Arunas; Williams, Sian; Bedbrook, Anna; Czarlewski, Wienczyslawa; Torres, Maria Jose; Shamji, Mohamed H; Morais-Almeida, Mário; Canonica, G Walter; Vecillas, Leticia de Las; Dykewicz, Mark S; Jacomelli, Cristina; Klimek, Ludger; Leemann, Lucas; Lourenço, Olga; Palamarchuk, Yuliia; Papadopoulos, Nikolaos G; Pereira, Ana Margarida; Savouré, Marine; Toppila-Salmi, Sanna K; Ventura, Maria Teresa; Yepes-Nuñez, Juan José; Cruz, Alvaro A; Ciprandi, Giorgio; Gemicioglu, Bilun; Giovannini, Mattia; Gradauskiene, Brigita; Jartti, Tuomas; Jeseňák, Miloš; Kuna, Piotr; Kvedariene, Violeta; Larenas-Linnemann, Désirée E; Latiff, Amir Ha; Mohammad, Yousser; Ohta, Ken; Mahesh, Padukudru A; Pali-Schöll, Isabella; Pfaar, Oliver; Regateiro, Frederico S; Roche, Nicolas; Taborda-Barata, Luís; Ulrik, Charlotte Suppli; Rostan, Marylin Valentin; Viegi, Giovanni; Zhang, Luo; Haahtela, Tari; Cherrez-Ojeda, Ivan; Carlos Ivancevich, Juan; Khaltaev, Nikolai; Yorgancioglu, Arzu; Abdullah, Baharudin; Al-Ahmad, Mona; Al-Nesf, Maryam Ali; Amaral, Rita; Asllani, Julijana; Bergmann, Karl-C; Bernstein, Jonathan A; Blaiss, Michael S; Braido, Fulvio; Camargos, Paulo; Carreiro-Martins, Pedro; Casale, Thomas; Cecchi, Lorenzo; Fiocchi, Alessandro; Giuliano, Antonio F M; Christoff, George; Cirule, Ieva; de Sousa, Jaime Correia; Costa, Elisio M; Del Giacco, Stefano; Devillier, Philippe; Dokic, Dejan; Hossny, Elham; Iinuma, Tomohisa; Irani, Carla; Ispayeva, Zhanat; Julge, Kaja; Kaidashev, Igor; Bennoor, Kazi S; Kraxner, Helga; Kull, Inger; Kulus, Marek; Kupczyk, Maciej; Kurchenko, Andriy; La Grutta, Stefania; Miculinic, Neven; Tuyet, Lan Le Thi; Makris, Michael; Milenkovic, Branislava; Lee, Sang Min; Montefort, Stephen; Moreira, Andre; Mullol, Joaquim; Nadif, Rachel; Nakonechna, Alla; Neffen, Hugo E; Niedoszytko, Marek; Nyembue, Dieudonné; O'Hehir, Robyn E; Ogulur, Ismail; Okamoto, Yoshitaka; Olze, Heidi; Palomares, Oscar; Panzner, Petr; Patella, Vincenzo; Pawankar, Ruby; Pitsios, Constantinos; Popov, Todor A; Puggioni, Francesca; Quirce, Santiago; Ramonaité, Agné; Recto, Marysia; Repka-Ramirez, Maria Susana; Roberts, Graham; Robles-Velasco, Karla; Rottem, Menachem; Salapatas, Marianella; Sastre, Joaquin; Scichilone, Nicola; Sisul, Juan-Carlos; Solé, Dirceu; Soto-Martinez, Manuel E; Sova, Milan; Tantilipikorn, Pongsakorn; Todo-Bom, Ana; Tsaryk, Vladyslav; Tsiligianni, Ioanna; Urrutia-Pereira, Marilyn; Valovirta, Erkka; Vasankari, Tuula; Wallace, Dana; Wang, De Yun; Worm, Margitta; Yusuf, Osman M; Zidarn, Mihaela; Gil-Mata, Sara; Marques-Cruz, Manuel; Mahboub, Bassam; Ansotegui, Ignacio J; Romano, Antonino; Aberer, Werner; Artesani, Maria Cristina; Azzolini, Elena; Barreto, Bruno; Bartra, Joan; Becker, Sven; Beghe, Bianca; Boner, Attilio; Borowiack, Ewa; Bouchard, Jacques; Bourgoin-Heck, Melisande; Brussino, Luisa; Buhl, Roland; Castillo-Vizuete, José Antonio; Charpin, Denis; Chavannes, Niels H; Chełmińska, Marta; Cheng, Lei; Chkhartishvili, Ekaterine; Cho, Seong H; Chong-Neto, Herberto Jose; Choudhury, Deepa; Chu, Derek K; Cingi, Cemal; Compalati, Enrico; Costa, Raquel Albuquerque; Cunha, Olga Mariana; Cvetkovski, Biljana; Cardona-Dahl, Victoria; D'Amato, Gennaro; Davies, Janet; Di Bona, Danilo; Gonzalez Diaz, Sandra N; Dimou, Maria V; Doulaptsi, Maria; Ferreira-da-Silva, Renato; Gawlik, Radoslaw; Calvo-Gil, Mario; Goksel, Ozlem; Gómez, Maximiliano R; Gotua, Maia; Grigoreas, Christos; Grisle, Ineta; Guzman, Maria Antonieta; Tan, Rachel House; Hyland, Michael; Ierodiakonou, Despo; Karavelia, Aspasia; Keith, Paul; Kisiel, Marta; Kosak, Tanja Soklic; Kosnik, Mitja; Koyuncu, Ilgim Vardaloglu; Kritikos, Vicky; Litynska, Justyna; Lombardi, Carlo; Louis, Gilles; Martini, Matteo; Meço, Cem; Mesonjesi, Eris; Mihaltan, Florin; Moniuszko, Marcin; Naclerio, Robert N; Nadeau, Kari C; Neisinger, Sophia; Ollert, Markus; Ordak, Michal; Paoletti, Giovanni; Park, Hae-Sim; Parmelli, Elena; Perdomo-Flores, Edgar Arturo; Pérez, José Miguel Fuentes; Pham-Thi, Nhan; Prokopakis, Emmanuel; Ribeiro-Vaz, Inês; Rolla, Giovanni; Romantowski, Jan; Rombaux, Philippe; Rouadi, Philip W; Rukhadze, Maia; Ryan, Dermot; Sadowska, Ewelina; Sakurai, Daiju; Salameh, Laila; Sarquis, Faradiba Serpa; Serrano, Elie; Da Silva, Jane; Soyka, Michael; Specjalski, Krzysztof; Tomic-Spiric, Vesna; Stevanovic, Katarina; Subramaniam, Abirami; Teixeira, Maria Do Ceu; Thomander, Tuuli; Vachova, Martina; van Hage, Marianne; Vichyanond, Pakit; Wagenmann, Martin; Ko, Fanny Wai San; Werminghaus, Pascal; Xepapadaki, Paraskevi Vicky; Xiang, Yi-Kui; Yang, Qintai; Yeverino, Daniela Rivero; Zuberbier, Jaron; Fonseca, João A

Dupilumab in Patients With Chronic Spontaneous Urticaria: Phase 3 LIBERTY-CSU CUPID Randomized Clinical Trials

Dupilumab治疗慢性自发性荨麻疹患者:LIBERTY-CSU CUPID 3期随机临床试验

Casale, Thomas B; Saini, Sarbjit S; Ben-Shoshan, Moshe; Giménez-Arnau, Ana M; Bernstein, Jonathan A; Hayama, Koremasa; Amin, Nikhil; Robinson, Lacey B; Bauer, Deborah; Dakin, Paula; Laws, Elizabeth; Radin, Allen; Makhija, Melanie

An encyclopedia of the cord blood metabolome reveals maternal-fetal interactions and disease risk

脐带血代谢组学百科全书揭示母胎相互作用和疾病风险

Lancaster, Samuel; Mataraso, Samson; Reiss, Jonathan D; Contrepois, Kevin; Trowbridge, Casandra A; Michael, Basil; Simms, Ian; Ellenberger, Matthew; Gibson, Michelle; Clary, Max; McGuire, Lettie; Wong, Frank; Canfield, Ethan; Cotter, Daniel; Wang, Tao; Yang, Yan; Nair, Ramesh; Krishnan, Prabhakar; Rangan, P Venkat; Bianco, Ylayaly Katherine; Bernstein, Jonathan A; Stevenson, David K; Cowan, Tina; Rangan, Ekanath; Aghaeepour, Nima; Kasowski, Maya; Sylvester, Karl G; Snyder, Michael P

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍。

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Abou Jamra Rami, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad