Evaluating the Evidence: Scientometric Analysis of Highly Cited Neurofibromatosis 1 Publications

The study of Neurofibromatosis 1 (NF1) is progressing rapidly. This study aimed to identify historical trends in publications focusing on NF1, to find the top 100 most cited publications on this topic, and to evaluate their level of evidence. This study identifies historical trends in publication regarding NF1 with the aim of providing readers useful information about the areas of research being performed, an educational guide to facilitate novice researchers in conducting effective evidence-based medical research, and unique insight into developments and trends of NF 1 research. This study also evaluates the evidence of highly cited papers on NF1. A search of all databases and journals accessible within Elsevier's Scopus was performed on June 27th, 2020, using combinations of the Boolean queries "Neurofibromatosis 1," "Von Recklinghausen," and "NF1," which yielded 13,599 documents. The top 100 most-cited papers were identified, analyzed, and evaluated for level of evidence. Evidence was assessed using the GRADE guidelines. The top 100 most-cited articles span years 1963-2010 and are published in 50 different journals. The average number of citations per publication was 366.5 (range 189-1527). The most cited article is "Neurofibromatosis: Conference Statement" (Stumpf et al., 1988). In this study, the top 100 most-cited works in NF1 are identified, characterized, and analyzed. This study will serve as a historical point of reference for future research, a jumping point for those unfamiliar with the topic, and an educational foundation for future NF1 specialists and researchers.