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

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy

扩张型心肌病中肌肉特异性核糖体的致病机制

Murphy, Michael R; Ganapathi, Mythily; Rotlevi, Esther R; Lee, Teresa M; Fisher, Joshua M; Patel, Megha V; Jayakar, Parul; Buchanan, Amanda; Rippert, Alyssa L; Ahrens-Nicklas, Rebecca C; Nair, Divya; Nayak, Shalini S; Anand, Aakanksha; Shukla, Anju; Soni, Rajesh K; Yin, Yue; Yang, Feiyue; Garcia, Enrique J; Reilly, Muredach P; Chung, Wendy K; Wu, Xuebing

Use of assistive technology to assess distal motor function in subjects with neuromuscular disease

利用辅助技术评估神经肌肉疾病患者的远端运动功能

Vincent-Genod, Dominique; Roche, Sylvain; Barrière, Aurélie; de Lattre, Capucine; Tinat, Marie; Venema, Eelke; Lagrange, Emmeline; Gomes Lisboa de Souza, Adriana; Thomann, Guillaume; Coton, Justine; Gautheron, Vincent; Féasson, Léonard; Rippert, Pascal; Vuillerot, Carole

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3相关神经发育障碍的综合分析:表型和基因型特征

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsma, Emilia K; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H; Sherr, Elliott H; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J A; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome

16q24.3微缺失破坏ANKRD11上游非编码区导致KBG综合征

Iwata-Otsubo, Aiko; Rippert, Alyssa L; Balciuniene, Jorune; Fiordaliso, Sarah K; Chen, Robert; Markose, Preetha; Skraban, Cara M; Gray, Christopher; Zackai, Elaine H; Dubbs, Holly A; Deardorff, Matthew A; Conlin, Laura K; Izumi, Kosuke

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons

新发的MAP2K4变异会导致一种新的神经发育综合征,其特征是iPSC衍生神经元中的JNK信号传导受损。

Nomakuchi, Tomoki T; Rippert, Alyssa L; De León, Sabrina A Santos; Gonzalez, Elizabeth M; Li, Dong; Angireddy, Rajesh; Finoti, Livia Sertori; Faletra, Flavio; Musante, Luciana; Tuula, Rinne; Amor, David J; von Wintzingerode, Lydia; Jamra, Rami Abou; Stover, Samantha R; Buchan, Jillian G; Hayek, Jennifer; Leon, Eyby; Attie-Bitach, Tania; Rio, Marlene; Baujat, Genevieve; Wallach, Elisabeth; Smail, Amandine; Dias, Kerith-Rae; Pfeifer, Ulrich; Peterson, Amanda; Ahrens-Nicklas, Rebecca C; Bhoj, Elizabeth J K

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.

RNF2 错义变异破坏多梳蛋白抑制,并在人类神经分化过程中实现异位间充质谱系转化

Ryan Charles W, Regan Samantha L, Sheingold Jason B, Goswami Anupam, Mulhern Maureen, Ploeger Jonathan, Huang Samuel, Hartill Verity, Rippert Alyssa, Bhoj Elizabeth, Chung Wendy K, Bain Jennifer, Srivastava Kinshuk Raj, Bielas Stephanie L

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

泛硫乙胺可改善 PPCS 缺乏症患者和细胞系模型中的扩张型心肌病特征

Zhang Fangfang, Dorn Tatjana, Gnutti Barbara, Anikster Yair, Kuebler Sarah, Ahrens-Nicklas Rebecca, Gosselin Rachel, Rahman Shamima, Durst Ronen, Zanuttigh Enrica, Güra Miriam A, Poch Christine M, Meier Anna B, Laugwitz Karl-Ludwig, Schüller Hans-Joachim, Messias Ana C, Sibon Ody C, Finazzi Dario, Rippert Alyssa, Li Dong, Truxal Kristen, Nandi Deipanjan, Lampert Brent C, Yeo Mildrid, Gardham Alice, Nissan Batel, Horowitz Cederboim Smadar, Moretti Alessandra, Iuso Arcangela

Expanding Genetic Counselor Roles: A Model for Global Research Development

拓展遗传咨询师的角色:全球研究发展模式

Muraresku, Colleen C; McCormick, Elizabeth M; Rockart, Lydia; Blaine Crowley, T; Asher, Stephanie; Back, Amanda; Baldino, Sarah M; Bedoukian, Emma; Britt, Allison D; Burrill, Natalie; Cacioppo, Cara; Clark, Dana Farengo; Clark, Mary Egan; Conway, Laura; Dratch, Laynie; Dubbs, Holly A; Engelhardt, Nicole M; Ginn, Natalie; Gray, Christopher; Hartman, Tiff; Hathaway, Evan R; Helbig, Katherine L; Hoffman-Andrews, Lily; Kasperski, Stefanie; Keena, Beth A; Keller, Kierstin N; Long, Jessica M; Lulis, Lauren; Lusk, Laina; McGinn, Daniel E; Mueller, Rebecca; Paul, Rache A; Pilchman, Lisa; Powers, Jacquelyn; Raible, Sarah E; Reichert, Sara; Rippert, Alyssa L; Arnold, Angela G; Ruggiero, Sarah M; Schindewolf, Erica; Sullivan, Katie Rose; Terek, Shannon; Wang, Bekah; Wells, McKenzie; Wisniewski, Natalia; Wright, Renee; Wood, Elisabeth McCarty; Woyciechowski, Stacy; Zelley, Kristin; Valverde, Kathleen D; McDonald-McGinn, Donna M

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

嘌呤生物合成酶IMPDH2的神经发育障碍突变会破坏其变构调节。

O'Neill, Audrey G; Burrell, Anika L; Zech, Michael; Elpeleg, Orly; Harel, Tamar; Edvardson, Simon; Mor-Shaked, Hagar; Rippert, Alyssa L; Nomakuchi, Tomoki; Izumi, Kosuke; Kollman, Justin M

Evaluating the Utility of a New Pathogenicity Predictor for Pediatric Cardiomyopathy

评估一种新的儿童心肌病致病性预测因子的实用性

Rippert, Alyssa L; Trackman, Sarah; Burstein, Danielle; Gaynor, J William; Griffis, Heather; Seymour, Christine; Ahrens-Nicklas, Rebecca