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

Rare dysfunctional SCN2A variants are associated with malformation of cortical development

罕见的SCN2A功能异常变异与皮质发育畸形有关

Clatot, Jérôme; Thompson, Christopher H; Sotardi, Susan; Jiang, Jinan; Trivisano, Marina; Balestrini, Simona; Ward, D Isum; Ginn, Natalie; Guaragni, Brunetta; Malerba, Laura; Vakrinou, Angeliki; Sherer, Mia; Helbig, Ingo; Somarowthu, Ala; Sisodiya, Sanjay M; Ben-Shalom, Roy; Guerrini, Renzo; Specchio, Nicola; George, Alfred L Jr; Goldberg, Ethan M

RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome

RLIM特异性活性报告基因可定义Tonne-Kalscheuer综合征的变异致病性。

Bandi, Venkateshwarlu; Rennie, Martin; Koch, Intisar; Gill, Polly; Pacheco, Oscar D; Berg, Aaron D; Cui, Hong; Ward, D Isum; Bustos, Francisco

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

EIF3F相关神经发育障碍:完善表型并拓展分子谱

Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; Zacher, Pia; Abou Jamra, Rami; Klöckner, Chiara; McGaughran, Julie; Kohlhase, Jürgen; Schuhmann, Sarah; Moran, Ellen; Pappas, John; Raas-Rothschild, Annick; Sacoto, Maria J Guillen; Henderson, Lindsay B; Palculict, Timothy Blake; Mullegama, Sureni V; Zghal Elloumi, Houda; Reich, Adi; Schrier Vergano, Samantha A; Wahl, Erica; Reis, André; Zweier, Christiane

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

CNOT1基因的新生突变会导致神经发育迟缓。CNOT1是CCR4-NOT复合物的核心成分,参与基因表达以及RNA和蛋白质的稳定性。

Vissers, Lisenka E L M; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; Billette de Villemeur, Thierry; Nugent, Kimberly; Raymond, F Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E; Murrell, Jill R; Wood, Kathleen; Cho, Megan T; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P M