Research Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis

Area of Science:

• Genetics and Molecular Biology
• Developmental Biology
• Medical Research

Background:

• Ciliopathies are a group of genetic disorders caused by defects in cilia, which are crucial for cellular function and development.
• Understanding the research landscape of ciliopathies is essential for advancing diagnosis, treatment, and therapeutic strategies.
• Bibliometric analysis provides a quantitative overview of research output, collaboration, and emerging trends in a specific field.

Purpose of the Study:

• To conduct a comprehensive bibliometric analysis of global research on ciliopathies.
• To identify key research hotspots, developmental trends, and collaborative networks in the field.
• To provide a framework for future research directions and resource allocation in ciliopathy studies.

Main Methods:

• Bibliometric analysis of 1821 papers on ciliopathies from the Web of Science Core Collection up to July 27, 2024.
• Utilized CiteSpace software for co-occurrence network analysis of authors, institutions, and keywords.
• Examined publication trends, prolific authors, and international research collaborations.

Main Results:

• Annual publication volume shows a wave-like increasing trend.
• Omran, Heymut is the most prolific author, with significant contributions from the United States, United Kingdom, and China.
• Established research hotspots include functional mutations, congenital heart disease, cystic fibrosis, dyskinesia, primary ciliary dyskinesia, and genetics.
• Emerging hotspots focus on genetics, dynein, multiple morphological abnormalities, motile cilia, male infertility, variants, and sperm flagella.

Conclusions:

• The study maps the evolutionary trajectory of research themes and identifies key global collaborative patterns in ciliopathies.
• Findings highlight established and emerging research hotspots, including genetics and cilia-related functions.
• This bibliometric overview offers a systematic framework to guide future research, foster collaboration, and optimize resource allocation in the ciliopathy field.