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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

A transposase-derived gene required for human brain development

一种转座酶衍生的基因,是人类大脑发育所必需的

Zapater, Luz Jubierre; Lewis, Sara A; Gutierrez, Rodrigo Lopez; Yamada, Makiko; Rodriguez-Fos, Elias; Planas-Felix, Merce; Cameron, Daniel; Demarest, Phillip; Nabila, Anika; Mueller, Helen S; Zhao, Junfei; Bergin, Paul; Reed, Casie; Chwat-Edelstein, Tzippora; Pagnozzi, Alex; Nava, Caroline; Bourel-Ponchel, Emilie; Cornejo, Patricia; Dursun, Ali; Özgül, R Köksal; Akar, Halil Tuna; Houlden, Henry; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Zifarelli, Giovanni; Bauer, Peter; Essid, Miriam; Benrhouma, Hanene; Hafsa, Meriem Ben; Kraoua, Ichraf; Galaz-Montoya, Carolina I; Proekt, Alex; Zhao, Xiaolan; Socci, Nicholas D; Hayes, Matthew; Bigot, Yves; Rabadan, Raul; Maroofian, Reza; Torrents, David; Kleinman, Claudia L; Kruer, Michael C; Toth, Miklos; Kentsis, Alex

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

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis

脑瘫基因检测结果的临床应用价值:系统评价和荟萃分析

Lewis, Sara A; Chopra, Maya; Cohen, Julie S; Bain, Jennifer M; Aravamuthan, Bhooma; Carmel, Jason B; Fahey, Michael C; Segel, Reeval; Wintle, Richard F; Zech, Michael; May, Halie; Haque, Nahla; Fehlings, Darcy; Srivastava, Siddharth; Kruer, Michael C

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

Multicenter Improvement in Screening for Dystonia in Young People With Cerebral Palsy

多中心改进脑瘫青少年肌张力障碍筛查

Aravamuthan, Bhooma Rajagopalan; Lott, Emma J; Pehlivan, Esra; Chintalapati, Keerthana; Grenard, Deborah; Roge, Desiree; Gelineau-Morel, Rose; Kyle, Dante; Becu, Christie; Kruer, Michael C; Katus, Linn; Gross, Paul; Bailes, Amy

Local Field Potential-Based Programming for Deep Brain Stimulation in Pediatric DYT1 Dystonia

基于局部场电位的深部脑刺激编程治疗儿童DYT1肌张力障碍

Kelbert, James; Guest, Ashley; Bisarad, Pritha; Larsh, Travis R; Bhatia, Poonam; Chinander, Sarah; Cornejo, Patricia; van der Werf, Lauren; Ponce, Francisco A; Thompson, John A; Kruer, Michael C

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects

与儿童肠道假性梗阻 (PIPO) 和脑发育缺陷相关的新型 KIF26A 变异

Nosrati, Mohammad Sadegh Shams; Doustmohammadi, Alireza; Severino, Mariasavina; Romano, Ferruccio; Zafari, Mahdi; Nemati, Amir Hesam; Velmans, Clara; Netzer, Christian; Breuer, Jonas; Broekaert, Ilse Julia; Joachim, Alexander; Almasri, Nihad; Kruer, Michael C; Skidmore, Peter; Bisarad, Pritha; Hoque, Jumana; Bakhtiari, Somayeh; Torella, Annalaura; Nigro, Vincenzo; Buffelli, Francesca; Fulcheri, Ezio; Müller, Annette; Zara, Federico; Capra, Valeria; Scala, Marcello

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype

进一步阐明 AUTS2 HX 重复结构域相关表型

Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S; Vasileiou, Georgia; Reis, André; Prince, Bradley; Hickey, Scott E; Koboldt, Daniel C; Schneider, Michael C; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh; Magee, Helen; Kheradmand, Shaydah; Kruer, Michael C; Swale, Andrew; Weber, Astrid; Landes, Caren; Zuffardi, Orsetta; Garavelli, Livia; van Haeringen, Arie; Ruivenkamp, Claudia A L; Pauly, Melissa; Au, Ping Yee Billie; Dobyns, William B; Aldinger, Kimberly A