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

Reimagining care of people living with rare diseases with artificial intelligence

利用人工智能重新构想罕见病患者的护理方式

Groza, Tudor; Baynam, Gareth; Jamuar, Saumya Shekhar

Translating multi-omics into healthcare: requisites for scalable and equitable implementation

将多组学转化为医疗保健:可扩展和公平实施的必要条件

Tumiene, Birute; Adams, David R; Allaway, Robert; Barrero, Maria J; Chan, Chun-Hung; Faundes, Víctor; Fear, Vanessa S; Glezer, Polina; Fuchs, Claudia; Groza, Tudor; Houwink, Elisa J F; Jamuar, Saumya Shekhar; Letinturier, Mary Catherine V; Lomash, Richa Madan; Puri, Ratna Dua; Reichardt, Juergen K V; Mehrian-Shai, Ruty; van der Westhuizen, Francois H; Varshney, Gaurav K; Yamamoto, Shinya; Baynam, Gareth

Fostering equity in precision health through diverse 3D facial data

通过多样化的3D面部数据促进精准医疗领域的公平性

Jamuar, Saumya; Palmer, Richard; Teo, Zi Qiang; Lee, Stuart; Helmholz, Petra; Chan, Shermaine; Baynam, Gareth

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?

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

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2重复综合征的功能技能:发育动态和退化

Ta, Daniel; Downs, Jenny; Baynam, Gareth; Richmond, Peter; Wilson, Andrew; Leonard, Helen

TrialR: critical enablers and the need for reusable Rare Disease Clinical Trial infrastructure in Western Australia

TrialR:关键推动因素以及西澳大利亚州对可重复使用罕见病临床试验基础设施的需求

MacDonald, Bradley; Burmaz, Maddison; Baker, Sue; Stevens, Kaila; Newell, Amanda; Baynam, Gareth

Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force

罕见病诊断、治疗、研究和教育中远程医疗应用的挑战与机遇:IRDiRC远程医疗工作组的关键意见领袖访谈

Parisi, Melissa A; Hartman, Adam L; Letinturier, Mary Catherine V; Tataru, Elena-Alexandra; Antoniadou, Victoria; Baynam, Gareth; Bloom, Lara; Crimi, Marco; Della Rocca, Maria G; Didato, Giuseppe; Douzgou Houge, Sofia; Jonker, Anneliene H; Kawome, Martina; Mueller, Friederike; O'Brien, James; Dua Puri, Ratna; Ryan, Nuala; Thong, Meow-Keong; Tumienė, Birutė; Chen, Faye H

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

精准医学方法解读先天性心脏病患儿的GATA4基因变异

Forbes, Catherine A; Shaw, Nicole C; Chen, Kevin G; Hedges, Mitchell; Er, Teagan S; Hool, Livia; Ward, Michelle; Poulton, Cathryn; Baynam, Gareth; Lassmann, Timo; Fear, Vanessa S

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

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

First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case

利用计算方法构建疾病自然史的第一步:从努南综合征案例中汲取的经验教训

Groza, Tudor; Rayabsri, Warittha; Gration, Dylan; Hariram, Harshini; Jamuar, Saumya Shekhar; Baynam, Gareth