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

Evolutionary transfer learning enables organism-wide inference of mammalian enhancer landscapes

进化迁移学习能够对哺乳动物增强子图谱进行全生物体范围的推断

Qiu, Chengxiang; Daza, Riza M; Welsh, Ian C; Patwardhan, Rupali P; Martin, Beth K; Li, Tony; Yang, Shizhao; Kempynck, Niklas; Taylor, Megan L; Fulton, Olivia; Le, Truc-Mai; O'Day, Diana R; Lalanne, Jean-Benoît; Domcke, Silvia; Murray, Stephen A; Aerts, Stein; Trapnell, Cole; Shendure, Jay

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice

儿童交替性偏瘫与Atp1a3基因突变相关,揭示了小鼠神经系统多种改变。

Terrey, Markus; Krivoshein, Georgii; Adamson, Scott I; Arystarkhova, Elena; Anderson, Laura; Szwec, John; McKee, Shelby; Jones, Holly; Perkins, Sara; Selvam, Vijay; Piec, Pierre-Alexandre; Chhaya, Dweet; Dehn, Ari; Zuberi, Aamir; Murray, Stephen A; Morsci, Natalia S; Sweadner, Kathleen J; Knowles, David A; Tolner, Else A; van den Maagdenberg, Arn M J M; Lutz, Cathleen M

Generation and characterization of a knockout mouse of an enhancer of EBF3

EBF3增强子敲除小鼠的构建与表征

Cordova Hurtado, Emily; Wotton, Janine M; Gulka, Alexander; Burke, Crystal; Ng, Jeffrey K; Bah, Ibrahim; Manuel, Juana; Heins, Hillary; Murray, Stephen A; Gorkin, David U; White, Jacqueline K; Peterson, Kevin A; Turner, Tychele N

Caspase-11 drives macrophage hyperinflammation in models of Polg-related mitochondrial disease

在Polg相关线粒体疾病模型中,Caspase-11驱动巨噬细胞过度炎症反应。

VanPortfliet, Jordyn J; Lei, Yuanjiu; Ramanathan, Muthumeena; Martinez, Camila Guerra; Wong, Jessica; Stodola, Tim J; Hoffmann, Brian R; Pflug, Kathryn; Sitcheran, Raquel; Kneeland, Stephen C; Murray, Stephen A; McGuire, Peter J; Cannon, Carolyn L; West, A Phillip

Efficient in vivo mammalian neuron editing using peptide-mediated CRISPR enzyme delivery

利用肽介导的CRISPR酶递送实现高效的体内哺乳动物神经元编辑

Manohar, Brigette D; Travis, Meika; Munjal, Vikas; Baehr, Christopher M; Rahnama, Lily M A; Kang, Min Hyung; Haddad, Rania F; Asija, Kunica; Noel, Eric A; Peddireddy, Navya; Chouhan, Runvir S; Sharma, Rohit; Wyman, Stacia K; Krishnappa, Netravathi; Killebrew, Deirdre A; Li, Song Hua; Snow, Kathy J; Byrne, Addison K; Boosani, Chandra S; Otero, P Anthony; Bringas, John; O'Brien, Allison A; Rocco, Matthew T; Zimmerly, Madison P; Gray, Isabelle; Sran, Gunita K; Patel, Mia I; Seidensticker, Emily F; Saville, Ethan; Gaitan, Yaned; Schmelzle, Amanda L; Subramanyam, Pradeep Nag B; Samaranch, Lluis; Green, Jonathan A; Wells, Kevin D; Ehrenberg, Alexander J; Murray, Stephen A; Clelland, Claire D; Murthy, Niren; Lonser, Russell R; Hadaczek, Piotr; Van Laar, Victor S; Bankiewicz, Krystof S; Wilson, Ross C

Generation and Characterization of a Knockout Mouse of an Enhancer of EBF3

EBF3增强子敲除小鼠的构建与表征

Hurtado, Emily Cordova; Wotton, Janine M; Gulka, Alexander; Burke, Crystal; Ng, Jeffrey K; Bah, Ibrahim; Manuel, Juana; Heins, Hillary; Murray, Stephen A; Gorkin, David U; White, Jacqueline K; Peterson, Kevin A; Turner, Tychele N

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor C; Gitau, Vanessa N; Byrne, Alicia B; Ajuyah, Pamela; Balzotti, Marie B; Berg, Jonathan S; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan T; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica X; Chopra, Maya; Clause, Amanda R; DiStefano, Marina T; DiTroia, Stephanie; Elnagheeb, Marwa A; Girod, Amanda N; Goel, Himanshu; Golden-Grant, Katie L; Ha, Thuong; Hamosh, Ada; Huang, Jennifer M; Hughes, Madeline Y; Jamuar, Saumya S; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda N T; Leigh, Sarah E; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah R; Milewski, Becky; Moosa, Shahida; Murray, Stephen A; Owens, Emma H; Palmer, Elizabeth E; Palus, Brooke C; Patel, Mayher J; Rajkumar, Revathi; Ratliff, Julie C; Raymond, F Lucy; Della Ripa Rodrigues Assis, Bruno; Sajan, Samin A; Schlachetzki, Zinayida; Schmidt, Sarah A; Stark, Zornitza; Strom, Samuel P; Taylor, Julie P; Thaxton, Courtney; Thrush, Devon L; Toro, Sabrina; Tshering, Kezang C; Vasilevsky, Nicole A; Wayburn, Bess; Webb, Ryan F; O'Donnell-Luria, Anne; Coffey, Alison J

Improving laboratory animal genetic reporting: LAG-R guidelines

改进实验动物遗传报告:LAG-R 指南

Teboul, Lydia; Amos-Landgraf, James; Benavides, Fernando J; Birling, Marie-Christine; Brown, Steve D M; Bryda, Elizabeth; Bunton-Stasyshyn, Rosie; Chin, Hsian-Jean; Crispo, Martina; Delerue, Fabien; Dobbie, Michael; Franklin, Craig L; Fuchtbauer, Ernst-Martin; Gao, Xiang; Golzio, Christelle; Haffner, Rebecca; Hérault, Yann; Hrabe de Angelis, Martin; Lloyd, Kevin C Kent; Magnuson, Terry R; Montoliu, Lluis; Murray, Stephen A; Nam, Ki-Hoan; Nutter, Lauryl M J; Pailhoux, Eric; Pardo Manuel de Villena, Fernando; Peterson, Kevin; Reinholdt, Laura; Sedlacek, Radislav; Seong, Je Kyung; Shiroishi, Toshihiko; Smith, Cynthia; Takeo, Toru; Tinsley, Louise; Vilotte, Jean-Luc; Warming, Søren; Wells, Sara; Whitelaw, C Bruce; Yoshiki, Atsushi; Pavlovic, Guillaume

Amphiphilic shuttle peptide delivers base editor ribonucleoprotein to correct the CFTR R553X mutation in well-differentiated airway epithelial cells.

两亲性穿梭肽将碱基编辑器核糖核蛋白递送至分化良好的气道上皮细胞,以纠正 CFTR R553X 突变

Kulhankova Katarina, Cheng Anna X, Traore Soumba, Auger Maud, Pelletier Mia, Hervault Maxime, Wells Kevin D, Green Jonathan A, Byrne Addison, Nelson Benjamin, Sponchiado Mariana, Boosani Chandra, Heffner Caleb S, Snow Kathy J, Murray Stephen A, Villacreses Raul A, Rector Michael V, Gansemer Nicholas D, Stoltz David A, Allamargot Chantal, Couture Frédéric, Hemez Colin, Hallée Stéphanie, Barbeau Xavier, Harvey Mario, Lauvaux Coraline, Gaillet Bruno, Newby Gregory A, Liu David R, McCray Paul B Jr, Guay David