Abstract
BACKGROUND: Osteogenesis Imperfecta (OI) is a rare genetic bone disorder that has attracted increasing scientific attention. Bibliometric analysis offers insights into the intellectual structure and evolution of this field. This study aimed to identify and evaluate the most highly cited articles on OI to highlight influential contributors, leading journals, and major research trends. METHODS: A bibliometric search was conducted in the Web of Science Core Collection using the terms "Osteogenesis Imperfecta" and "Brittle Bone Disease." The search was restricted to English- language original and review articles published between 2000 and 2024. The 50 most cited articles were selected and analyzed based on citation metrics, journal impact factors, author contributions, institutional affiliations, and collaboration patterns. Statistical analyses were performed using SPSS version 25.0. RESULTS: The United States produced the highest number of publications, followed by the United Kingdom and Germany. The most cited article, published by Rauch et al. (2004), received 950 citations. The Journal of Bone and Mineral Research and The American Journal of Human Genetics were the most prolific journals in this domain. Observational studies and genetic investigations dominated the top-cited works. Collaboration networks revealed strong interconnections among North American and European institutions, while keyword analysis highlighted growing research interest in gene therapy, molecular diagnostics, and precision medicine. CONCLUSION: This bibliometric analysis identified the most influential contributions in OI research, underscoring the role of key authors, journals, and international collaborations. It also revealed major trends in genetic and clinical studies while highlighting emerging areas such as gene therapy and precision medicine as promising directions for future research.