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

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

RNU2-2基因的双等位基因变异会导致最常见的已知隐性遗传性神经发育障碍。

Greene, Daniel; Mendez, Rodrigo; Lees, Jon; Barbosa, Mafalda; Bruselles, Alessandro; Chiriatti, Luigi; Ferraro, Federico; Mancini, Cecilia; Schot, Rachel; Sleutels, Frank; Bertini, Enrico; Bonner, Devon E; Bouman, Arjan; Brooks, Alice S; Cassini, Thomas A; Ezell, Kimberly M; Gomez-Ospina, Natalia; Kleefstra, Tjitske; O'Donoghue, Michael; Rives, Lynette; Shashi, Vandana; Spillmann, Rebecca C; Wafik, Mohamed; Freson, Kathleen; Barakat, Tahsin Stefan; Tartaglia, Marco; Bernstein, Jonathan A; Mumford, Andrew D; Wheeler, Matthew T; Turro, Ernest

Childhood brain tumors instruct cranial hematopoiesis and immunotolerance.

儿童脑肿瘤会影响颅内造血和免疫耐受。

Cooper Elizabeth, Posner David A, Lee Colin Y C, Hu Linda, Bonner Sigourney, Taylor Jessica T, Baldwin Oscar, Jimenez-Guerrero Rocio, Masih Katherine E, Rahrmann Katherine Wickham, Eigenbrood Jason, Ngo Gina, Franklin Valar Nila Roamio, D'Santos Clive S, Mair Richard, Santarius Thomas, Craven Claudia, Jalloh Ibrahim, Moreno Vicente Julia, Halim Timotheus Y F, Wang Li, Kreigstien Arnold R, Wainwright Brandon, Swartling Fredrik J, Khan Javed, Clatworthy Menna R, Gilbertson Richard J

Lower airway immunophenotyping in severe preschool wheeze reveals distinct clusters described by heterogeneity in neutrophil phenotypes

严重学龄前喘息的下呼吸道免疫表型分析揭示了中性粒细胞表型异质性所描述的不同簇

Bonner, Katie L; Fontanella, Sara; Gore, Mindy; Cook, James; Hoffland, Ashley; Scotney, Elizabeth; Tian, Kunyuan; Hillson, Kushalinii; Shamji, Mohamed; Layhadi, Janice; Al-Kuwari, Haya; Bush, Andrew; Custovic, Adnan; Lloyd, Clare M; Saglani, Sejal

Genetic Diagnosis and Discovery Enabled by Large Language Models

大型语言模型助力基因诊断与发现

Tu, Tao; Saab, Khaled; Liu, Weida; Fang, Zhouqing; Cheng, Zhuanfen; Spasic, Svetolik; Djurisic, Maja; Mohri, Hiroaki; Ren, Wenlong; Palepu, Anil; Gottweis, Juraj; Karthikesalingam, Alan; Kulkarni, Kavita; Pawlosky, Annalisa; Bonner, Devon; Kravets, Elijah; Marwaha, Shruti; Mendez, Hector R; Wheeler, Matthew T; Bernstein, Jonathan A; Tsai, Cheng-Yu; Wu, Chen-Chi; Stankovic, Konstantina M; Natarajan, Vivek; Peltz, Gary

Assessing Patient-Reported Outcomes in Acute Attacks of Hereditary Angioedema: Insights from a Mixed Methods Study of Participants Receiving Standard-of-Care Treatments in a Real-World Setting

评估遗传性血管性水肿急性发作期患者报告结局:一项在真实世界环境中接受标准治疗的参与者混合方法研究的启示

Mendivil, Joan; Zhu, Li; Bonner, Nicola; Gargon, Elizabeth; Jouvin, Marie-Helene; Abetz-Webb, Linda; Fairbanks, Hannah; Sims, Joel; Middlehurst, Jessica; Cronin, Patrick; Chen, Maggie; Cohn, Danny M; Lu, Peng; Riedl, Marc A

Nonsense-mediated decay controls a negative feedback loop in innate immune sensing

无义介导衰变控制着先天免疫感知中的负反馈回路

Boudreault, Simon; Rivera-Lopez, Yahira; Ferretti, Max B; Tracey, Matthew A; Bonner, James; Jacobs, Bertram L; Lynch, Kristen W

Personal and environmental predictors of polycyclic aromatic hydrocarbon exposure identified through repeated silicone wristband sampling

通过重复硅胶腕带采样确定了多环芳烃暴露的个人和环境预测因素。

Bonner, Emily M; Clark, Alison E; Bramer, Lisa M; Rohlman, Diana; Tidwell, Lane G; Waters, Katrina M; Anderson, Kim A

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

个间质性肺病家族中的双等位基因 LAMP3 变异:疾病基因关联的证据。

Keehan Laura A, Ono-Minagi Hitomi, Hadhud Mohamad, Rips Jonathan, Hinds Daniel M, Fischer Anthony J, Bartlett Jennifer A, McCray Paul B, Qawasmi Nada, Nathan Nadia, Louvrier Camille, Desroziers Tifenn, Damme Markus, Griese Matthias, Wegner Daniel J, Cole F Sessions, Wambach Jennifer A, Wheeler Matthew T, Burbelo Peter D, Bonner Devon E, Bernstein Jonathan A, Chiorini John A, Breuer Oded, Milla Carlos

Child Vaccination Status and Behavioral and Social Drivers of Vaccination Among Their Caregivers in the Philippines: Cross-Sectional Survey Study Comparison of Household, Mobile, and Online Modes

菲律宾儿童疫苗接种状况及其照护者疫苗接种行为和社会驱动因素:家庭、移动和在线模式的横断面调查研究比较

Bonner, Kimberly E; Hipol, Mikka; Sy, Dominique; Royono, Rivandra; Johnson, Douglas; Del Rosario, Isabel; Redfern, Alice; Biel-Romualdo, Darahlyn; Wong, Man Kai; Lam, Eugene; Kulkarni, Shibani; Ward, Kirsten; Lacson, Romel; Chen, Meng-Yu; Miraflor, James Matthew; Pacial, Devon Ray; Bunoan, Rowena; Catan, Hugo; Shragai, Talya

Digital Educational Strategies to Implement Evidence-Based Care for Atherosclerotic Cardiovascular Disease

数字化教育策略在动脉粥样硬化性心血管疾病循证治疗中的应用

Zeng, Aileen; Bonner, Carissa; Chow, Clara K; Godinho, Myron A; Laranjo, Liliana; Nickel, Brooke; Zaman, Sarah; O'Hagan, Edel