Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis

BackgroundNoonan syndrome (NS) is a rare group of autosomal genetic disorders. In recent years, with the exploration and development of molecular diagnostic techniques, more and more researchers have begun to pay attention to NS. However, there is still a lack of reports on the bibliometric analysis...

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Main Authors: Zhengjiu Cui, Yuanyuan Wang, Fei Luo, Juanjuan Diao, Bin Yuan
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1488425/full
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author Zhengjiu Cui
Yuanyuan Wang
Fei Luo
Juanjuan Diao
Bin Yuan
author_facet Zhengjiu Cui
Yuanyuan Wang
Fei Luo
Juanjuan Diao
Bin Yuan
author_sort Zhengjiu Cui
collection DOAJ
description BackgroundNoonan syndrome (NS) is a rare group of autosomal genetic disorders. In recent years, with the exploration and development of molecular diagnostic techniques, more and more researchers have begun to pay attention to NS. However, there is still a lack of reports on the bibliometric analysis of NS worldwide. This study aims to assess the current research status and development trend of NS, to explore the research hotspots and emerging topics, and to point out the direction for future scientific research.MethodsWeb of Science Core Collection was selected as the search database for bibliometric analysis of NS-related publications from 1998 to 2023. Statistical and visual analysis of the number of publications, countries, institutions, authors, journals, keywords, and references were analyzed using Citespace, VOSviewer, Scimago Graphica, and BibliometrixR.ResultsA total of 2041 articles were included in this study. The United States had the highest number of publications, and Istituto Superiore di Sanità, Italy, was the institution with the highest number of publications. TARTAGLIA M was the scientist with the highest number of publications and citations. Among the journals, AMERICAN JOURNAL OF MEDICAL GENETICS PART A has the highest output, and Nature Genetics is the most frequently cited. The reference with the highest outburst intensity is Roberts AE, LANCET, 2013. the cluster diagram divides all the keywords into seven categories, with the most vigorous outburst being “of function mutations.”ConclusionResearch hotspots in the field of NS focus on the correspondence between NS genotype and phenotype and the precise diagnosis of NS. Future research efforts will explore more deeply from the perspective of long-term intervention strategies for NS. There is an urgent need to rely on significant research countries, institutions, journals, and authors to lead the construction of a more robust global collaborative network that will enhance research efficacy.
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spelling doaj-art-1a7992bc7e0c43fb8ad78e31393ed81c2024-12-12T06:18:41ZengFrontiers Media S.A.Frontiers in Genetics1664-80212024-12-011510.3389/fgene.2024.14884251488425Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysisZhengjiu Cui0Yuanyuan Wang1Fei Luo2Juanjuan Diao3Bin Yuan4Department of Pediatrics, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, ChinaDepartment of Pediatrics, Suqian Affiliated Hospital of Nanjing University of Chinese Medicine, Suqian, ChinaDepartment of Pediatrics, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, ChinaDepartment of Pediatrics, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, ChinaDepartment of Pediatrics, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, ChinaBackgroundNoonan syndrome (NS) is a rare group of autosomal genetic disorders. In recent years, with the exploration and development of molecular diagnostic techniques, more and more researchers have begun to pay attention to NS. However, there is still a lack of reports on the bibliometric analysis of NS worldwide. This study aims to assess the current research status and development trend of NS, to explore the research hotspots and emerging topics, and to point out the direction for future scientific research.MethodsWeb of Science Core Collection was selected as the search database for bibliometric analysis of NS-related publications from 1998 to 2023. Statistical and visual analysis of the number of publications, countries, institutions, authors, journals, keywords, and references were analyzed using Citespace, VOSviewer, Scimago Graphica, and BibliometrixR.ResultsA total of 2041 articles were included in this study. The United States had the highest number of publications, and Istituto Superiore di Sanità, Italy, was the institution with the highest number of publications. TARTAGLIA M was the scientist with the highest number of publications and citations. Among the journals, AMERICAN JOURNAL OF MEDICAL GENETICS PART A has the highest output, and Nature Genetics is the most frequently cited. The reference with the highest outburst intensity is Roberts AE, LANCET, 2013. the cluster diagram divides all the keywords into seven categories, with the most vigorous outburst being “of function mutations.”ConclusionResearch hotspots in the field of NS focus on the correspondence between NS genotype and phenotype and the precise diagnosis of NS. Future research efforts will explore more deeply from the perspective of long-term intervention strategies for NS. There is an urgent need to rely on significant research countries, institutions, journals, and authors to lead the construction of a more robust global collaborative network that will enhance research efficacy.https://www.frontiersin.org/articles/10.3389/fgene.2024.1488425/fullnoonan syndromebibliometric analysisgenetic mutationtrendscooperationweb of science
spellingShingle Zhengjiu Cui
Yuanyuan Wang
Fei Luo
Juanjuan Diao
Bin Yuan
Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis
Frontiers in Genetics
noonan syndrome
bibliometric analysis
genetic mutation
trends
cooperation
web of science
title Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis
title_full Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis
title_fullStr Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis
title_full_unstemmed Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis
title_short Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis
title_sort mapping the current status and outlook of research on noonan syndrome over the last 26 years a bibliometric and visual analysis
topic noonan syndrome
bibliometric analysis
genetic mutation
trends
cooperation
web of science
url https://www.frontiersin.org/articles/10.3389/fgene.2024.1488425/full
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