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

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy

反义寡核苷酸介导的基因敲低疗法治疗两名患有严重KCNT1癫痫性脑病的婴儿

Nakayama, Tojo; El Achkar, Christelle M; Burbano, Lisseth E; Quraishi, Imran H; Wu, Jing; Li, Melody; Asami, Yutaro; Golinski, Sean R; Sherrill, Emma; Goodlett, Benjamin D; de Gusmao, Claudio M; Friedman, Danielle A; Lentucci, Claudia; Suslovitch, Victoria; Riccardi, Olivia; Faour, Kamli N W; Kuniholm, Ashley; Soucy Verran, Aubrie; Coffman, Siobhan; Ahtam, Banu; Zhao, Boxun; Chin, Diana H; DiDonato, Renata L; Hu, Chunguang A; Lopez, Edith; Hills, Sonia; Maljevic, Snezana; Tran, Helene; Bush, Lynn W; Grant, Patricia Ellen; Madsen, Joseph R; Smith, Richard S; Kaczmarek, Leonard K; Berde, Charles B; Yu, Timothy W

Implementation and evaluation of the Y-Check comprehensive adolescent health check-up intervention in Zimbabwe: a pre-post mixed-methods study

在津巴布韦实施和评估 Y-Check 青少年综合健康检查干预措施:一项前后混合方法研究

Doyle, Aoife M; Nzvere, Farirai; Manyau, Salome; Simms, Victoria; Li Lin, Ines; Kandiye, Faith R; Nyamayaro, Chipo Ashley; Takawira, Michaela; Chingono, Rudo M S; Tembo, Mandikudza; Manhibi, Ronald; Dauya, Ethel; Dziva Chikwari, Chido; Greco, Giulia; Bernays, Sarah; Baltag, Valentina; Maisiri, Hannah; Kasu, Tonderai; Nyamayaro, Wenceslas; Bandason, Tsitsi; Mackworth-Young, Constance R S; Banati, Prerna; Weiss, Helen A; Ross, David A; Ferrand, Rashida A

Palaeometabolomes yield biological and ecological profiles at early human sites

古代谢组学揭示了早期人类遗址的生物学和生态学特征

Bromage, Timothy G; Denys, Christiane; De Jesus, Christopher Lawrence; Erdjument-Bromage, Hediye; Kullmer, Ottmar; Sandrock, Oliver; Schrenk, Friedemann; McKee, Marc D; Reznikov, Natalie; Ashley, Gail M; Hu, Bin; Poudel, Sher B; Souron, Antoine; Buss, Daniel J; Ittah, Eran; Kubat, Jülide; Rabieh, Sasan; Yakar, Shoshana; Neubert, Thomas A

Satellite imagery reveals increasing volatility in human night-time activity

卫星图像显示,人类夜间活动的波动性日益增加。

Li, Tian; Wang, Zhuosen; Kyba, Christopher C M; Román, Miguel O; Seto, Karen C; Yang, Yun; Qiu, Shi; Kuester, Theres; Fragkias, Michail; Chen, Xiang; Meyer, Thomas H; Rittenhouse, Chadwick D; Tai, Xiaonan; Cullerton, Mari; Hong, Falu; Grinstead, Ashley; Song, Kexin; Suh, Ji Won; Yang, Xiucheng; Kalb, Virginia L; Deng, Chengbin; Zhu, Zhe

Decay of driver mutations shapes the landscape of intestinal transformation.

驱动基因突变的衰减塑造了肠道转化的格局。

Lourenço Filipe C, Sadien Iannish D, Wong Kim, Adler Sam, Sawle Ashley, Santana Leonor Schubert, Hazelwood Lee, Giavara Giada, Nicholson Anna M, Eldridge Matthew D, Maka Noori, Lynch Gerard, McSorley Stephen T, Edwards Joanne, Kemp Richard, Adams David J, Winton Douglas J

The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

家族性高胆固醇血症基因 LDLR 编码变异的功能图谱。

Tabet Daniel R, Coté Atina G, Lancaster Megan C, Weile Jochen, Rayhan Ashyad, Fotiadou Iosifina, Kishore Nishka, Li Roujia, Kuang Da, Knapp Jennifer J, Carrero Carmela S, Taverniti Olivia, Axakova Anna, Castelli Jack M P, Islam Mohammad M, Sowlati-Hashjin Shahin, Gandhi Aanshi, Maaieh Ranim, Garton Michael, Matreyek Kenneth, Fowler Douglas M, Bourbon Mafalda, Pfisterer Simon G, Glazer Andrew M, Kroncke Brett M, Parikh Victoria N, Ashley Euan A, Knowles Joshua W, Claussnitzer Melina, Cirulli Elizabeth T, Hegele Robert A, Roden Dan M, MacRae Calum A, Roth Frederick P

Cardiotoxicity of T cell immunotherapies

T细胞免疫疗法的心脏毒性

Raddatz, Michael A; Stein-Merlob, Ashley F; Mahmood, Syed S; Ganatra, Sarju; Addison, Daniel; Lin, Tasha L; Larson, Sarah M; Yang, Eric H

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

建立变异效应图谱,以解决意义未明的变异,并指导心血管医学研究。

Glazer, Andrew M; Tabet, Daniel R; Parikh, Victoria N; Kroncke, Brett M; Cote, Atina G; Yamamoto, Yuta; Wang, Qianru; Muhammad, Ayesha; Lancaster, Megan C; O'Neill, Matthew J; Weile, Jochen; Yang, Tao; Macrae, Calum A; Ashley, Euan A; Roth, Frederick P; Roden, Dan M

Epigenetic Regulation of Chromosomal Instability by EZH2 Methyltransferase.

EZH2甲基转移酶对染色体不稳定性进行表观遗传调控。

Bai Yang, Agustinus Albert S, Yomtoubian Shira, Meydan Cem, McNally Dylan R, Yoffe Liron, Hubisz Melissa J, Tranquille Marvel, Pramod Sneha, Hong Christy, Plasilova Magdalena L, Kapoor Aakanksha R, Singh Arshdeep, Withers Henry, Dow Lukas E, Laughney Ashley M, Bhinder Bhavneet, Elemento Olivier, Melnick Ari M, Bakhoum Samuel F, Mittal Vivek

Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases

全球多族裔全基因组分析鉴定出与甲状腺癌和良性甲状腺疾病相关的基因和生物学通路

White, Samantha L; Brasher, Maizy S; Pattee, Jack; Zhou, Wei; Chapman, Sinéad; Jee, Yon Ho; Bell, Caitlin C; Jamil, Taylor L; Barrio, Martin; Arehart, Christopher H; Evans, Luke M; Hirbo, Jibril; Cox, Nancy J; Straub, Peter; Namba, Shinichi; Bertucci-Richter, Emily; Guare, Lindsay; Edris, Ahmed; Morris, Sam; Mulford, Ashley J; Zhang, Haoyu; Fennessy, Brian; Tobin, Martin D; Chen, Jing; Williams, Alexander T; John, Catherine; van Heel, David A; Mathur, Rohini; Finer, Sarah; Moksnes, Marta R; Brumpton, Ben M; Åsvold, Bjørn Olav; Peculis, Raitis; Rovite, Vita; Konrade, Ilze; Wang, Ying; Crooks, Kristy; Chavan, Sameer; Fisher, Matthew J; Rafaels, Nicholas; Lin, Meng; Shortt, Jonathan A; Sanders, Alan R; Whiteman, David C; MacGregor, Stuart; Medland, Sarah E; Thorsteinsdóttir, Unnur; Stefánsson, Kári; Karaderi, Tugce; Egan, Kathleen M; Bocklage, Therese; McCrary, Hilary C; Riedlinger, Gregory; Salhia, Bodour; Shriver, Craig; Phan, Minh D; Farlow, Janice L; Edge, Stephen; Kaur, Varinder; Churchman, Michelle L; Rounbehler, Robert J; Brock, Pamela L; Ringel, Matthew D; Pividori, Milton; Schweppe, Rebecca; Raeburn, Christopher D; Walters, Robin G; Chen, Zhengming; Li, Liming; Matsuda, Koichi; Okada, Yukinori; Zöllner, Sebastian; Verma, Anurag; Preuss, Michael H; Kenny, Eimear; Hendricks, Audrey E; Fishbein, Lauren; Kraft, Peter; Daly, Mark J; Neale, Benjamin M; Martin, Alicia R; Cole, Joanne B; Haugen, Bryan R; Gignoux, Christopher R; Pozdeyev, Nikita