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

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

Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.

β-微管蛋白 TUBB 的突变会损害纤毛发生,并与纤毛病样表型相关。

Mollica Antonio, Omer Safia, Forguson Georgiana, Steiman Sydney, Evagelou Sonia L, Naumenko Serhiy, Walker Susan, Li Lu Yi, Teeling Aideen, Lindsay Kyle, Erwood Steven, Visuvanathan Shagana, Vig Anjali, Vernon Robert M, Akman Benjamin, Smith-Hicks Constance, Forman-Kay Julie D, Shroff Manohar, Pai Vivek, Harrison Rene E, Cohn Ronald D, Ivakine Evgueni A

Template-assisted sequence knockin rescues skeletal and cardiac muscle function in a deletion model of Duchenne muscular dystrophy.

模板辅助序列敲入可挽救杜氏肌营养不良症缺失模型中的骨骼肌和心肌功能。

Fatehi Sina, Rok Matthew J, Marks Ryan M, Huynh Emily, Kozman Natalie, Truong Hong Anh, Chi Lijun, Yan Bei, Khazeeva Enzhe, Delgado-Olguin Paul, Ivakine Evgueni A, Cohn Ronald D

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

国际精准儿童健康伙伴关系(IPCHiP):一项旨在加速罕见儿科疾病发现并改善治疗效果的倡议

Howell, Katherine B; White, Susan M; McTague, Amy; D'Gama, Alissa M; Costain, Gregory; Poduri, Annapurna; Scheffer, Ingrid E; Chau, Vann; Smith, Lindsay D; Stephenson, Sarah E M; Wojcik, Monica; Davidson, Andrew; Sebire, Neil; Sliz, Piotr; Beggs, Alan H; Chitty, Lyn S; Cohn, Ronald D; Marshall, Christian R; Andrews, Nancy C; North, Kathryn N; Cross, J Helen; Christodoulou, John; Scherer, Stephen W

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

评估血液转录组分析对先前已通过基因组测序评估的儿科队列的诊断价值

Hou, Huayun; Yuki, Kyoko E; Costain, Gregory; Szuto, Anna; Barnes, Sierra; Ramani, Arun K; Celik, Alper; Braga, Michael; Gloven-Brown, Meagan; Stavropoulos, Dimitri J; Bowdin, Sarah; Cohn, Ronald D; Mendoza-Londono, Roberto; Scherer, Stephen W; Brudno, Michael; Marshall, Christian R; Stephen Meyn, M; Shlien, Adam; Dowling, James J; Wilson, Michael D; Kyriakopoulou, Lianna

Correction: A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy

更正:一种携带多外显子Dmd基因缺失的新型杜氏肌营养不良小鼠模型表现出进行性肌营养不良和早发性心肌病。

Wai, Tatianna; Wong, Ying; Ahmed, Abdalla; Yang, Grace; Maino, Eleonora; Steiman, Sydney; Hyatt, Elzbieta; Chan, Parry; Lindsay, Kyle; Wong, Nicole; Golebiowski, Diane; Schneider, Joel; Delgado-Olguı N, Paul; Ivakine, Evgueni A; Cohn, Ronald D

Generation and characterization of a mouse model of Becker muscular dystrophy with a deletion of Dmd exons 52 to 55.

构建和表征缺失 Dmd 外显子 52 至 55 的 Becker 肌营养不良小鼠模型。

Perillat Lucie O M, Wong Tatianna W Y, Maino Eleonora, Ahmed Abdalla, Scott Ori, Hyatt Elzbieta, Delgado-Olguin Paul, Visuvanathan Shagana, Ivakine Evgueni A, Cohn Ronald D

Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with an IRAK1-MECP2 duplication

在具有IRAK1-MECP2重复的工程化人类细胞MECP2重复综合征模型中去除多基因重复

Rizvi, Samar Z; Chan, Wing Suen; Maino, Eleonora; Steiman, Sydney; Forguson, Georgiana; Klepfish, Maya; Cohn, Ronald D; Ivakine, Evgueni A

Pharmacogenetic profiling via genome sequencing in children with medical complexity

利用基因组测序对患有复杂疾病的儿童进行药物遗传学分析

Pan, Amy; Scodellaro, Sierra; Khan, Tayyaba; Ushcatz, Inna; Wu, Wendy; Curtis, Meredith; Cohen, Eyal; Cohn, Ronald D; Hayeems, Robin Z; Meyn, M Stephen; Orkin, Julia; Otal, Jaskiran; Reuter, Miriam S; Walker, Susan; Scherer, Stephen W; Marshall, Christian R; Cohn, Iris; Costain, Gregory

Urgent call for guidance supporting gene-based drug dosing in children and adolescents

紧急呼吁制定指导方针,以支持儿童和青少年基于基因的药物剂量调整

Scodellaro, Sierra; Cohn, Ronald D; Cohn, Iris