Gareth Baynam

机构：Australian National University, The Kids Research Institute Australia, The University of Western Australia, Curtin University, Government of Western Australia, Princess Margaret Hospital for Children, Government of Western Australia Department of Health, King Edward Memorial Hospital, Perth Children's Hospital · ORCID：0000-0003-4920-9553

发表论文 250 篇 · 总被引 12570 次 · h-index 48

代表论文

• The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap (2024 · Nature Reviews Drug Discovery · 被引 34)
• Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases (2024 · Orphanet Journal of Rare Diseases · 被引 33)
• Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases (2024 · Orphanet Journal of Rare Diseases · 被引 15)
• Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force (2024 · European Journal of Medical Genetics · 被引 14)
• Genomic Screening Consortium for Australian Newborns ( GenSCAN ) (2025 · Journal of Paediatrics and Child Health · 被引 9)
• Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon (2024 · Nature Genetics · 被引 9)