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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Sex Differences in Asthma Pathogenesis

哮喘发病机制中的性别差异

McKernan, Kaitlin E; Pilier, Emely Henriquez; Newcomb, Dawn C

Etiology of gene expression-based subtypes of breast cancer in the Ghana Breast Health Study

加纳乳腺健康研究中基于基因表达的乳腺癌亚型病因学研究

Hurson, Amber N; Butler, Ebonee N; Hamilton, Alina M; Shah, Khushali K; Sienso, Bryan Aapentuo; Ocansey, Grace Adjoa; Kunfah, Sheba Mary Pognaa; Petershie, Bernard; White, Kaitlin E; Edusei, Lawrence; Adjei, Ernest; Dedey, Florence; Vanderpuye, Verna; Clegg-Lamptey, Joe-Nat; Yarney, Joel; Biritwum, Richard; Nyarko, Kofi M; Aitpillah, Francis; Oppong, Joseph K; Osei-Bonsu, Ernest; Ansong, Daniel; Awuah, Baffour; Wiafe, Beatrice Addai; Wiafe, Seth; Brinton, Louise; Ahearn, Thomas U; Troester, Melissa A; Figueroa, Jonine D; Titiloye, Nicolas; Garcia-Closas, Montserrat; Abubakar, Mustapha

Development of an Advanced Manufacturing Technology for Continuous Drug Substance Production

开发用于连续药物原料生产的先进制造技术

Gregory, Daniel G; Kay, Kaitlin E; Turnage, Justin T; Penzer, Kimberly E; Ferri, James K

Taxonomic and biosynthetic diversity of the marine actinomycete Salinispora across spatial scales

海洋放线菌 Salinispora 在不同空间尺度上的分类和生物合成多样性

Creamer, Kaitlin E; Castro-Falcón, Gabriel; Ince, Ebru; Vasilat, Victoria; Vereau Gorbitz, David; Demko, Alyssa M; Jensen, Paul R

Quality of Life, Self-Reported Cognitive Difficulties, and Performance-Based Cognitive Problems in Multiple Sclerosis: What's Sleep Got to Do With It?

多发性硬化症患者的生活质量、自我报告的认知困难和基于表现的认知问题:睡眠与此有何关系?

Riegler, Kaitlin E; Román, Cristina A F; Guty, Erin T; Thomas, Garrett A; Bradson, Megan L; Arnett, Peter A

Astrocytes upregulate interleukin-15 in response to neuroinflammation during Alzheimer's disease

在阿尔茨海默病期间,星形胶质细胞会响应神经炎症而上调白细胞介素-15的表达。

Shaw, Benjamin C; Kaiser, Kaitlin E; Smith, Brandon C; Timken, J Payton; Louveau, Antoine; Williams, Jessica L

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; Ungar, Rachel A; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A; Chong, Jessica X; Délot, Emmanuèle C; Eichler, Evan E; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

Single-cell profiling demonstrates the combined effect of wheeze phenotype and infant viral infection on airway epithelial development.

单细胞分析表明喘息表型和婴儿病毒感染对气道上皮发育的综合影响

Berdnikovs Sergejs, Newcomb Dawn C, Haruna Nana-Fatima, McKernan Kaitlin E, Kuehnle Shelby N, Gebretsadik Tebeb, McKennan Christopher, Ma Siyuan, Cephus Jacqueline-Yvonne, Rosas-Salazar Christian, Anderson Larry J, Gern James E, Hartert Tina

Severe housing cost burden and premature cardiovascular mortality

严重的住房成本负担和过早的心血管疾病死亡率

Kosaraju, Nishad S; Choudhury, Tanisha; Stoner, Lee; Thomas, Aleah L; White, Kaitlin E; Andrews, Marcus R; Lawrence, Briana I; Ormiston, Cameron K; Mason, Lee; Shiels, Meredith S; Ewing, Aldenise P; Chen, Yingxi; McGee-Avila, Jennifer K; Lawrence, Wayne R