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

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY

对 MODY 基因中功能缺失变异的系统分析表明,这些变异具有基因特异性效应,并扩展了导致 MODY 的 INS 变异谱。

Laver, Thomas W; Sriram, Aparajita; Wakeling, Matthew N; Şiklar, Zeynep; Kobaisi, Farah; Kalyon, Oguzhan; Hattersley, Andrew T; Weedon, Michael N; Flanagan, Sarah E; De Franco, Elisa; Colclough, Kevin; Patel, Kashyap A

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify

MODY在晚发型糖尿病中较为常见,具有靶向治疗的潜力,但识别难度较大。

Sharp, Luke N; Mirshahi, Uyenlinh L; Colclough, Kevin; Hall, Timothy S; Haley, Jeremy S; Cannon, Stuart J; Laver, Thomas W; Weedon, Michael N; Hattersley, Andrew T; Carey, David J; Patel, Kashyap A

Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY

基因确诊的MODY的患病率、外显率和死亡率

Sharp, Luke N; Colclough, Kevin; Murray Leech, Jacques; Cannon, Stuart J; Laver, Thomas W; Hattersley, Andrew T; Weedon, Michael N; Patel, Kashyap A

Controlled Human Infection of Healthy Adults With Lyophilized Neisseria lactamica Induces Asymptomatic, Immunogenic Nasopharyngeal Carriage in the United Kingdom and Mali

在英国和马里,用冻干乳糖奈瑟菌对健康成年人进行可控的人体感染,可诱导无症状、免疫原性鼻咽携带。

Gbesemete, D F; Haidara, F; Laver, J R; Ibrahim, M; MacLennan, J; Dale, A P; Gorringe, A R; Traore, Y; Diallo, F; Badji, H; Traore, A; Onwuchekwa, U; Jones, E; Webb, C; Guy, J; Theodosiou, A A; Faust, S N; Sow, S O; Heyderman, R S; Tapia, M D; Read, R C

Characteristics of publicly available digital dementia risk screening tools: A scoping review

公开可用的数字痴呆风险筛查工具的特征:范围界定综述

Rwodzi, Zandile; Mellow, Maddison L; Wu, Dan Ping; Laver, Kate; Dumuid, Dorothea; Smith, Ashleigh E

Stakeholders' Perspectives on Implementing the iSupport for Dementia Program to Address Inequalities in Dementia Care: A Qualitative Study

利益相关者对实施“iSupport for Dementia”项目以解决痴呆症护理不平等问题的看法:一项定性研究

Xiao, Lily; Tran, Kham; Laver, Kate; Meyer, Claudia; Milte, Rachel; Chang, Hui-Chen Rita; Yu, Ying; Ullah, Shahid; Howard, Anna; Kanakaris, Vicki; Sophou, Mary; Leon, Barbara; Kitson, Alison

Rural Health Services Disruption: An Evaluation of Nursing's Professional 'Positionality'

农村卫生服务中断:对护理专业“地位”的评估

Smith, Jessica G; Laver, Sharon

Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome

TMEM167A隐性变异会导致新生儿糖尿病、小头畸形和癫痫综合征。

Virgilio, Enrico; Tielens, Sylvia; Bonfield, Georgia; Nian, Fang-Shin; Sawatani, Toshiaki; Vinci, Chiara; Govier, Molly; Montaser, Hossam; Lartigue, Romane; Arunagiri, Anoop; Liboz, Alexandrine; Da Silva, Flavia Natividade; Lytrivi, Maria; Papadopoulou, Theodora; Wakeling, Matthew N; Russ-Silsby, James; Bowman, Pamela; Johnson, Matthew B; Laver, Thomas W; Piron, Anthony; Yi, Xiaoyan; Fantuzzi, Federica; Hendrickx, Sirine; Igoillo-Esteve, Mariana; Santacreu, Bruno J; Suntharesan, Jananie; Ghildiyal, Radha; Hegde, Darshan; Shah, Nikhil; Acar, Sezer; Dönmez, Beyhan Özkaya; Özkan, Behzat; Mohsin, Fauzia; Talaat, Iman M; Abbas, Mohamed Tarek; Abbas, Omar Tarek; Alghamdi, Hamed Ali; Kandemir, Nurgun; Flanagan, Sarah E; Scharfmann, Raphael; Arvan, Peter; Raoux, Matthieu; Nguyen, Laurent; Hattersley, Andrew T; Cnop, Miriam; De Franco, Elisa

Maximising Embedded Pharmacists in AGed CAre Medication Advisory Committees (MEGA-MAC): protocol for implementing Australia's new guiding principles for medication management in residential aged care facilities using knowledge brokers and a national quality improvement collaborative

最大限度地发挥嵌入式药剂师在老年护理药物咨询委员会中的作用(MEGA-MAC):利用知识经纪人和国家质量改进协作机制,在养老机构中实施澳大利亚新的药物管理指导原则的方案

Cross, Amanda J; Blakeley, Brooke; Laver, Kate; Haines, Terry P; Hilmer, Sarah N; Manek, Atish; Bennett, Alexandra; Martini, Angelita; Quirke, Lyntara; Kulh, Mary Ann; Whittaker, Sara L; Cenin, Dayna R; Hobbs, Anthony; Money, Joanne; Rieniets, Karina; Salisbury, Kris; Yong, Alene Sze Jing; Bell, J Simon

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

RNA测序在罕见病队列中的临床应用及分子层面的见解

Stark, Jamie C; Pipko, Neta; Liang, Yijing; Szuto, Anna; Tsoi, Chung Ting; Dickson, Megan A; Yuki, Kyoko E; Hou, Huayun; Scholten, Sydney; Pulsifer, Kenzie; Acker, Meryl; Laver, Meredith; Murthy, Harsha; Moran, Olivia M; Bonnell, Emily; Liang, Nicole; Sidhu, Jashanpreet; Dupuis, Lucie; Seno, Mohammad M Ghahramani; Chard, Marisa; Jobling, Rebekah K; Cameron, Jessie; Chami, Rose; Inbar-Feigenberg, Michal; Wilson, Michael D; Chitayat, David A; Boycott, Kym M; Kyriakopoulou, Lianna; Mendoza-Londono, Roberto; Marshall, Christian R; Dowling, James J; Costain, Gregory; Deshwar, Ashish R