Roberto Giugliani

24.6k total citations
641 papers, 15.0k citations indexed

About

Roberto Giugliani is a scholar working on Physiology, Epidemiology and Rheumatology. According to data from OpenAlex, Roberto Giugliani has authored 641 papers receiving a total of 15.0k indexed citations (citations by other indexed papers that have themselves been cited), including 453 papers in Physiology, 184 papers in Epidemiology and 143 papers in Rheumatology. Recurrent topics in Roberto Giugliani's work include Lysosomal Storage Disorders Research (429 papers), Trypanosoma species research and implications (158 papers) and Glycogen Storage Diseases and Myoclonus (122 papers). Roberto Giugliani is often cited by papers focused on Lysosomal Storage Disorders Research (429 papers), Trypanosoma species research and implications (158 papers) and Glycogen Storage Diseases and Myoclonus (122 papers). Roberto Giugliani collaborates with scholars based in Brazil, United States and United Kingdom. Roberto Giugliani's co-authors include Paul Harmatz, Michael Beck, Ida Vanessa Döederlein Schwartz, Úrsula da Silveira Matte, Joseph Muenzer, Maira Graeff Burin, Guilherme Baldo, Carmen Regla Vargas, Maurizio Scarpa and J. E. Wraith and has published in prestigious journals such as The Lancet, Journal of Clinical Oncology and SHILAP Revista de lepidopterología.

In The Last Decade

Roberto Giugliani

600 papers receiving 14.6k citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name h Career Trend Papers Cites
Roberto Giugliani Brazil 60 10.5k 4.8k 3.4k 3.4k 1.9k 641 15.0k
Michael Beck Germany 59 10.9k 1.0× 5.2k 1.1× 1.6k 0.5× 3.7k 1.1× 2.4k 1.2× 213 12.2k
Priya S. Kishnani United States 56 7.6k 0.7× 2.2k 0.5× 2.6k 0.8× 6.4k 1.9× 2.4k 1.2× 456 12.8k
Joseph Muenzer United States 40 5.2k 0.5× 2.3k 0.5× 1.4k 0.4× 1.8k 0.5× 805 0.4× 128 6.9k
Paul Harmatz United States 53 5.4k 0.5× 2.7k 0.6× 1.4k 0.4× 2.0k 0.6× 713 0.4× 310 9.8k
Robert J. Desnick United States 92 16.1k 1.5× 6.7k 1.4× 12.3k 3.6× 5.3k 1.6× 4.7k 2.4× 564 30.4k
Simon Jones United Kingdom 43 4.2k 0.4× 1.7k 0.3× 969 0.3× 1.2k 0.4× 583 0.3× 255 5.7k
Generoso Andria Italy 46 2.3k 0.2× 1.1k 0.2× 2.9k 0.9× 2.6k 0.8× 811 0.4× 215 8.5k
Yasuyuki Suzuki Japan 50 3.4k 0.3× 1.4k 0.3× 3.8k 1.1× 956 0.3× 747 0.4× 223 7.3k
Barbara K. Burton United States 50 3.2k 0.3× 1.0k 0.2× 2.9k 0.9× 1.3k 0.4× 307 0.2× 248 7.7k
Yin‐Hsiu Chien Taiwan 40 2.6k 0.2× 864 0.2× 2.1k 0.6× 1.6k 0.5× 740 0.4× 298 6.1k

Countries citing papers authored by Roberto Giugliani

Since Specialization
Citations

This map shows the geographic impact of Roberto Giugliani's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Roberto Giugliani with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Roberto Giugliani more than expected).

Fields of papers citing papers by Roberto Giugliani

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Roberto Giugliani. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Roberto Giugliani. The network helps show where Roberto Giugliani may publish in the future.

Co-authorship network of co-authors of Roberto Giugliani

This figure shows the co-authorship network connecting the top 25 collaborators of Roberto Giugliani. A scholar is included among the top collaborators of Roberto Giugliani based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Roberto Giugliani. Roberto Giugliani is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Burin, Maira Graeff, Kristiane Michelin‐Tirelli, André Salim Khayat, et al.. (2025). Analysis of genomic ancestry and characterization of a new variant in MPS type VII. Orphanet Journal of Rare Diseases. 20(1). 198–198. 1 indexed citations
2.
Muenzer, Joseph, Hernán Amartino, Barbara K. Burton, et al.. (2024). Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey. Molecular Genetics and Metabolism. 143(1-2). 108576–108576. 2 indexed citations
3.
Gilmor, Michelle, Raymond Wang, Can Fıçıcıoğlu, et al.. (2023). RGX-111 GENE THERAPY FOR THE TREATMENT OF SEVERE MUCOPOLYSACCHARIDOSIS TYPE I (MPS I): INTERIM ANALYSIS OF DATA FROM THE FIRST IN HUMAN STUDY. Molecular Genetics and Metabolism. 138(3). 107416–107416.
4.
Lopes, Nuno Vasco, Cátia Santos‐Pereira, Esmeralda Martins, et al.. (2023). Leukocyte Imbalances in Mucopolysaccharidoses Patients. Biomedicines. 11(6). 1699–1699. 3 indexed citations
5.
Vieira, Taiane Alves, et al.. (2023). Training of community health agents — a strategy for earlier recognition of mucopolysaccharidoses. Journal of Community Genetics. 15(2). 129–135.
6.
Muschol, Nicole, Roberto Giugliani, Simon Jones, et al.. (2022). Sanfilippo syndrome: consensus guidelines for clinical care. Orphanet Journal of Rare Diseases. 17(1). 391–391. 18 indexed citations
7.
Kubaski, Francyne, Alberto Burlina, Giulia Polo, et al.. (2022). Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C. International Journal of Neonatal Screening. 8(3). 39–39. 2 indexed citations
8.
Burin, Maira Graeff, Kristiane Michelin‐Tirelli, Fernanda Bender, et al.. (2021). Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions. Genetics and Molecular Biology. 44(1). e20200138–e20200138. 12 indexed citations
9.
Leistner‐Segal, Sandra, et al.. (2021). Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region. American Journal of Medical Genetics Part A. 185(10). 2929–2940. 5 indexed citations
10.
Federhen, Andressa, et al.. (2020). Estimated birth prevalence of mucopolysaccharidoses in Brazil. American Journal of Medical Genetics Part A. 182(3). 469–483. 14 indexed citations
11.
Kubaski, Francyne, Inês Sousa, Alexandre Wagner Silva de Souza, et al.. (2020). Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives. International Journal of Neonatal Screening. 6(4). 90–90. 9 indexed citations
12.
Clarke, L., Roberto Giugliani, Nathalie Guffon, et al.. (2019). Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. Clinical Genetics. 96(4). 281–289. 51 indexed citations
14.
Jacques, Carlos Eduardo Diaz, Nathalia Sperotto, Helen Taís da Rosa, et al.. (2018). Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage. Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 835. 21–24. 7 indexed citations
15.
Hendriksz, Christian J., Kenneth I. Berger, Roberto Giugliani, et al.. (2014). International guidelines for the management and treatment of Morquio A syndrome. American Journal of Medical Genetics Part A. 167(1). 11–25. 93 indexed citations
16.
Riegel, Mariluce, et al.. (2014). Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil. Clinical & Biomedical Research. 34(4). 357–365. 1 indexed citations
17.
Decker, Celeste, Zi‐Fan Yu, Roberto Giugliani, et al.. (2010). Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. Journal of Pediatric Rehabilitation Medicine. 3(2). 89–100. 52 indexed citations
18.
Giugliani, Roberto, et al.. (2003). Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients. Genetic Testing. 7(4). 347–349. 18 indexed citations
19.
Schulte, Joann, et al.. (1999). A comprehensive screening program in South Brazil.. PubMed. 30 Suppl 2. 47–8. 1 indexed citations
20.
Giugliani, Roberto. (1988). Erros inatos do metabolismo: uma visäo panorâmica. 2 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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