A Bibliometric Analysis of the Most Cited Articles on Short Stature.

Background: Short stature, defined as height significantly below the population average, can arise from various etiologies, including genetic mutations, hormonal imbalances and chronic illnesses. Despite increasing research, a comprehensive assessment of high-impact studies in this field remains lacking. This bibliometric analysis evaluates emerging research trends, methodological quality and the impact of the most-cited articles on short stature, highlighting strengths and identifying gaps in the literature. Methods: The 50 most relevant articles on short stature were organized in a bibliometric format and analyzed using R Studio with the packages “BiblioShiny,” “Bibliometrix” and “Meta.” The analysis included visualizing publication trends, identifying leading countries, authors and affiliations and calculating total citations. A thematic analysis assessed the frequency of key terms and research focus areas. Results: The analysis of the top 50 articles reveals that the USA dominates the publication landscape, contributing 58% of the articles, followed by the UK at 11%. Germany, Italy and the Netherlands contribute 5% each, while Switzerland, England and Japan provide 3% and Iran, Finland and France account for 2%. The studies utilize diverse methodologies, with genetic mutation research comprising 17 studies, alongside case-control studies, observational studies and systematic reviews. Genetic studies focusing on mutations in genes like PTPN11, FGFR3 and FGF23 are prevalent, elucidating conditions such as Noonan syndrome and Turner syndrome. Evidence levels vary, with many studies classified as Level 4, while comprehensive reviews and expert consensus papers are categorized as Level 1. Michael Holzer and Niklas Nielsen are the most productive authors, with citations of 1255 and 1231, respectively. The most prolific journal is “The American Journal of Medical Genetics Part A,” which published 17 relevant articles. Research volume has steadily increased over the past two decades, reflecting growing awareness of short stature as a significant public health issue. Conclusions: This analysis highlights significant contributions to short stature research, emphasizing the need for better translation of genetic findings into clinical outcomes. Future research should prioritize personalized treatments, advanced diagnostic tools and the psychosocial impacts on affected individuals.