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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

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

Mn-Promoted Co/TiO(2) Catalysts: Quantitative Analysis of Cobalt Polymorphs and Stacking Faults and Its Effect on Fischer-Tropsch Synthesis Performance

锰促进的Co/TiO₂催化剂:钴多晶型物和堆垛层错的定量分析及其对费托合成性能的影响

Farooq, Danial; Costley-Wood, Lucy; Stockenhuber, Sebastian; Vamvakeros, Antonis; Price, Stephen W T; Allen, Lisa J; Drnec, Jakub; Paterson, James; Peacock, Mark; Irving, Daniel J M; Chater, Philip A; Beale, Andrew M

Engineering controlled-release steroid therapeutics: fabrication and molecular design of self-assembled microparticles

工程化控释类固醇药物:自组装微粒的制备和分子设计

Akanbi, Oluwaseun D; Felder, Michael L; Kupor, Daniel; Feng, Jiachen; de Campos, Luana Janaína; Bain, Lisa J; Sanchez, Crystal; Safari, Hanieh; Vo, Thi; Conda-Sheridan, Martin; Eniola-Adefeso, Omolola

B-Cell Repertoire of Children With Atopic Dermatitis Exhibits Altered IgE Maturation Associated With Allergic Food Sensitization

特应性皮炎患儿的B细胞库表现出与过敏性食物致敏相关的IgE成熟改变

Gill, Kirandeep K; Moore, Carolina; Nwogu, Onyekachi; Kroner, John W; Chang, Wan-Chi; Burkle, Jeffrey; Virolainen, Samuel J; Stevens, Mariana L; Baatyrbek, Asel; Miraldi, Emily R; Biagini, Jocelyn M; Devonshire, Ashley L; Kottyan, Leah; Schwartz, Justin T; Assa'ad, Amal H; Martin, Lisa J; Andorf, Sandra; Khurana Hershey, Gurjit K; Roskin, Krishna M

Extracellular-Matrix-Based Materials from Decellularized Tissue: Opportunities, Challenges, and Future Directions in Regenerative Medicine

源自脱细胞组织的细胞外基质材料:再生医学的机遇、挑战和未来方向

Laude, Madeline; Kolliopoulos, Vasiliki; Mikos, Antonios G; White, Lisa J; Cosgriff-Hernandez, Elizabeth

Comparison of Crosslinking Reagents and Their Impacts on Bone Derived ECM Hydrogels

交联剂的比较及其对骨源性细胞外基质水凝胶的影响

Jones, Joshua N; Lee, I-Ning; Rialas, Andreas; Kellaway, Simon C; Loczenski, Rabea; Parmenter, Christopher; White, Lisa J

The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments

电子病历与基因组学研究:评估基因组信息风险评估影响的设计和分析框架

Limdi, Nita; Beasley, T Mark; Cortopassi, Josh; Davis, Brittney; Bangash, Hana; Chen, Jingheng; Chisholm, Rex L; Chung, Wendy K; Cimino, James J; Connolly, John; Crosslin, David R; Davis, Kyle W; DiVietro, Alanna; Esplin, Edward D; Freimuth, Bob; Gordon, Adam; Hakonarson, Hakon; Hamed, Marwan; He, Megan; Hoell, Christin; Holm, Ingrid; Hripscak, George; Irvin, Margurite R; Jarvik, Gail P; Karavite, Dean; Karlson, Elizabeth W; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Knerr, Sarah; Korf, Bruce; Kottyan, Leah; Kullo, Iftikhar; Larkin, Katie; Lennon, Niall; Linder, Jodell E; Manolio, Teri; Martin, Lisa J; McNally, Elizabeth M; Morse, Jennifer; Murphy, Shawn; Namjou, Bahram; Odgis, Jacqueline A; Orlando, Lori; Pacheco, Jennifer; Peterson, Josh F; Pineda-Alvarez, Daniel E; Prows, Cindy; Puckelwartz, Megan; Purcell, Jasmine; Rasmussen-Torvik, Laura; Rehm, Heidi; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sabatello, Maya; Schaid, Daniel; Sharp, Richard; Smith, Johanna L; Smoller, Jordan W; Soper, Emily R; Sterling, Rene; Suckiel, Sabrina A; Terek, Shannon; Thayer, Jeritt; Ting, Yi-Lee; Tiwari, Hemant; Velez-Edwards, Digna; Wagholikar, Kavishwar B; Walunas, Theresa; Wei, Wei-Qi; Weng, Chunua; Wiesner, Georgia; Abul-Husn, Noura S; Veenstra, David L

An increased throughput workflow to identify ion transport and membrane lysis agents for antimicrobial discovery

提高工作流程通量,以鉴定用于抗菌药物发现的离子转运剂和膜裂解剂。

Yang, Kylie; Marsh, Caleb; White, Lisa J; Molyneux, Fergus W; Allam, Thomas L; Popoola, Precious I A; Keers, Olivia B; Rice, Matthew; Hilton, Kira L F; Kotak, Hiral A; Sutton, J Mark; Ortega-Roldan, Jose L; Hind, Charlotte K; Hiscock, Jennifer R; Haynes, Cally J E

Amino acid appended supramolecular self-associating amphiphiles demonstrate dual activity against both MRSA and ovarian cancer

氨基酸修饰的超分子自缔合两亲分子对耐甲氧西林金黄色葡萄球菌(MRSA)和卵巢癌均表现出双重活性。

Popoola, Precious I A; Allam, Thomas L; Lilley, Rebecca J; Manwani, Chandni; Keers, Olivia B; Tan, Junyang; Yang, Kylie; Long, Yifan; Clark, Ewan R; White, Lisa J; Hilton, Kira L F; Rankin, Jennifer; Baker, Jennifer; Bennett, Charlotte; Wilson, Hollie B; Morton, Evelyn R; Keskküla, Alvaro; Martin, Bethany; O'Connor, Christopher; Sutton, J Mark; Hind, Charlotte K; Garrett, Michelle D; Haynes, Cally J E; Hiscock, Jennifer R