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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

MediLabSecure: A decade of One Health actions to prevent emerging vector-borne diseases in the Mediterranean, Sahel and Black Sea regions

MediLabSecure:十年“同一健康”行动,旨在预防地中海、萨赫勒和黑海地区新出现的虫媒传染病

Lagal, Vanessa; Pérez-Ramírez, Elisa; Mikaty, Guillain; Amato, Laura; Robbiati, Claudia; Pajovic, Igor; Sekulic, Nebojsa; Ćupina, Aleksandra Ignjatović; Kavran, Mihaela; Haddad, Nabil; Feghali, Rita; Karam, Sylvia; Fares, Wasfi; Triki, Henda; Seguy, Maud; Fernández-Pinero, Jovita; Aguilera-Sepúlveda, Pilar; Declich, Silvia; Marsboom, Cedric; Jiménez-Clavero, Miguel Angel; Fournet, Florence; Calistri, Paolo; Hendrickx, Guy; Dente, Maria Grazia; Manuguerra, Jean-Claude

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

Reduced blood EPAC1 protein levels as a marker of severe coronary artery disease: the role of hypoxic foam cell-transformed smooth muscle cells.

血液中 EPAC1 蛋白水平降低是严重冠状动脉疾病的标志:缺氧泡沫细胞转化平滑肌细胞的作用

Garcia Eduardo, Claudi Lene, La Chica Lhoëst Maria Teresa, Polishchuk Anna, Samouillan Valerie, Benitez Amaro Aleyda, Pinero Janet, Escolà-Gil Joan Carles, Sabidó Eduard, Leta Ruben, Vilades David, Llorente Cortes Vicenta

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy

快速基因组检测对急性重症癫痫患儿临床结局的影响

Sasaki, Erina; Millington, Philip; Sazonova, Taisiia; Hanington, Lucy; Parrish, Andrew; Banos-Pinero, Benito; Lord, Helen; Taylor, John; Jeeneea, Ramanand; Sherlaw-Sturrock, Charlotte; Parida, Amitav; Vogt, Julie; Naik, Swathi; Sa, Mario; Kini, Usha

Integrative multi-omics framework for causal gene discovery in Long COVID

用于发现新冠长期症状致病基因的整合多组学框架

Pinero, Sindy; Li, Xiaomei; Liu, Lin; Li, Jiuyong; Lee, Sang Hong; Winter, Marnie; Nguyen, Thin; Zhang, Junpeng; Le, Thuc Duy

Highly Selective Room-Temperature Blue LED-Enhanced NO(2) Gas Sensors Based on ZnO-MoS(2)-TiO(2) Heterostructures.

基于 ZnO-MoS(2)-TiO(2) 异质结构的高选择性室温蓝光 LED 增强型 NO(2) 气体传感器。

Flores Soraya Y, Pacheco Elluz, Malca Carlos, Peng Xiaoyan, Chen Yihua, Zhou Badi, Pinero Dalice M, Diaz-Vazquez Liz M, Zhou Andrew F, Feng Peter X

Electronic Nicotine Delivery Systems Use and Nicotine Exposure Among Adults Who Use ENDS Alone or With Cigarettes: The Population Assessment of Tobacco and Health Study 2013-2019

电子尼古丁输送系统(ENDS)的使用及单独使用或与香烟混合使用成年人的尼古丁暴露情况:2013-2019年烟草与健康人口评估研究

Edwards, Kathryn C; Garcia-Rosales, Katherine; Goniewicz, Maciej L; Ashley, David; Hatsukami, Dorothy; Wang, Lanqing; Feng, Jun; Blount, Benjamin C; Sharma, Eva; Merrill, Lori S; Taylor, Kristie; Duffy, Kara; Harvanko, Arit; Del Valle-Pinero, Arseima; Christensen, Carol H; Chang, Cindy M; van Bemmel, Dana; Rivers, Derick L; Mishina, Elena V; Tolliver, Eric A; Roh, Esther J; Hammad, Hoda T; Kc, Prabha; Xu, Kerui; Montes de Oca, Ruben; Cheng, Yu-Ching; Everard, Colm; Kimmel, Heather L; Blanco, Carlos; Compton, Wilson; Hyland, Andrew