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

A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?

对大型语言模型罕见病知识的系统性评估：大型语言模型对罕见病了解多少？

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100558
Groza, Tudor; Marcello, Allison J; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N; Graessner, Holm; Chong, Jessica X; Baynam, Gareth; Jamuar, Saumya Shekhar
发表日期：2026
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Transient neonatal hyperparathyroidism caused by a monoallelic TRPV6 dominant negative variant

由单等位基因 TRPV6 显性负性变异引起的短暂性新生儿甲状旁腺功能亢进

期刊:JBMR Plus
影响因子:2.4
doi:10.1093/jbmrpl/ziaf159
Lam Shang Leen, Jason; Suzuki, Yoshiro; Koh, Ai Ling; Jayagobi, Pooja Agarwal; Nishimura, Gen; Lim, Weng Khong; Jamuar, Saumya Shekhar; Vasanwala, Rashida Farhad
发表日期：2026
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Information content as a health system screening tool for rare diseases

信息内容作为罕见病健康系统筛查工具

期刊:npj Digital Medicine
影响因子:15.1
doi:10.1038/s41746-025-02096-x
Groza, Tudor; Robinson, Peter N; Lim, Weng Khong; Narasimhalu, Kaavya; Hsieh, Jenny; Yeo, Khung Keong; Keow, Goh Bee; Thomas, Terrence; Wong, Tien Yin; Karnani, Neerja; Baynam, Gareth; Jamuar, Saumya Shekhar
发表日期：2025
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National Thalassemia Registry: a 30 year journey of implementing carrier screening in Singapore

新加坡国家地中海贫血登记处：30年来实施携带者筛查的历程

期刊:The Lancet Regional Health Western Pacific
影响因子:8.1
doi:10.1016/j.lanwpc.2025.101471
Zhang, Stella; Tan, Guek Peng; Peh, Soh Lan; Ang, Swee Lim; Kam, Sylvia; Lim, Weng Khong; Ting, Teck Wah; Lai, Angeline; Tan, Ee Shien; Jamuar, Saumya Shekhar; Law, Hai Yang; Ng, Ivy
贫血
代谢
发表日期：2025
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Expanding carrier screening: beyond the genes, to include underrepresented ancestries

扩大携带者筛查范围：超越基因层面，纳入代表性不足的族裔群体

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00545-w
Bylstra, Yasmin; Jian, Pua Chee; Lin, Sui; Goh, Jeannette; Choi, Christina; Teo, Jing Xian; Lim, Sandy; Hodgson, Jan; Menezes, Melody; Weng, Ruifen; Amor, David J; Lim, Weng Khong; Jamuar, Saumya S
发表日期：2025
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Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort

影响多民族亚洲遗传性视网膜疾病队列诊断率的因素

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01833-w
Lieviant, Jane Andrea; Chan, Choi Mun; Bylstra, Yasmin; Jain, Kanika; Teo, Jing Xian; Lim, Wan Wan; Kam, Sylvia; Chao, Tang Wei; Chai Bin Siew, Nellie; Davila, Sonia; Vithana, Eranga Nishanthie; Mathur, Ranjana Sanjay; Tan, Tien-En; Tan, Patrick; Jamuar, Saumya S; Fenner, Beau James; Lim, Weng Khong
发表日期：2025
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Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese

Alport基因的致病变异在新加坡多元种族人群中普遍存在，其中华人人群的发生率最高。

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-92520-9
Lim, Tina Si Ting; Koh, Chee Teck; Savige, Judith; Ng, Alvin Yu-Jin; Ng, Jun Li; Chin, Hui-Lin; Lim, Weng Khong; Chan, Gek Cher; Yeo, See Cheng; Leow, Esther Hui Min; Yan, Benedict Junrong; Ng, Kar Hui; Zhang, Yaochun
发表日期：2025
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Assessment of transformer-based AI in clinical oncology

评估基于Transformer的AI在临床肿瘤学中的应用

期刊:BMC Medical Informatics and Decision Making
影响因子:3.8
doi:10.1186/s12911-025-03306-y
Seong, Lim Weng; Lio, Pietro; Taib, Nur Aishah; Ganggayah, Mogana Darshini; Dhillon, Sarinder Kaur
肿瘤
肿瘤免疫
发表日期：2025
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Indoor mobility challenges among older adults: A systematic review of barriers and limitations

老年人室内活动障碍：障碍和局限性的系统性综述

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0325064
Yaw, Xin Er; Teh, Pei Lee; Lim, Weng Marc; Lee, Shaun Wen Huey
发表日期：2025
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Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa

EYS相关性视网膜色素变性的眼底自发荧光特征

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0318857
Kominami, Taro; Tan, Tien-En; Ushida, Hiroaki; Jain, Kanika; Goto, Kensuke; Bylstra, Yasmin M; Sajiki, Ai Fujita; Mathur, Ranjana S; Ota, Junya; Lim, Weng Khong; Nishiguchi, Koji M; Fenner, Beau J
IF
EYS
发表日期：2025
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