Sérgio B. Sousa

2.4k total citations
37 papers, 594 citations indexed

About

Sérgio B. Sousa is a scholar working on Genetics, Molecular Biology and Pulmonary and Respiratory Medicine. According to data from OpenAlex, Sérgio B. Sousa has authored 37 papers receiving a total of 594 indexed citations (citations by other indexed papers that have themselves been cited), including 25 papers in Genetics, 13 papers in Molecular Biology and 9 papers in Pulmonary and Respiratory Medicine. Recurrent topics in Sérgio B. Sousa's work include Connective tissue disorders research (15 papers), Neonatal Respiratory Health Research (6 papers) and interferon and immune responses (3 papers). Sérgio B. Sousa is often cited by papers focused on Connective tissue disorders research (15 papers), Neonatal Respiratory Health Research (6 papers) and interferon and immune responses (3 papers). Sérgio B. Sousa collaborates with scholars based in Portugal, United Kingdom and Spain. Sérgio B. Sousa's co-authors include Raoul C. M. Hennekam, Jorge Saraiva, Thomy de Ravel, Monika Cohen, Juliane Hoyer, Alfredo Orrico, Anita Rauch, Christiane Zweier, Armand Bottani and André Reis and has published in prestigious journals such as The American Journal of Human Genetics, Human Molecular Genetics and Lara D. Veeken.

In The Last Decade

Sérgio B. Sousa

29 papers receiving 586 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Sérgio B. Sousa Portugal 12 359 351 59 50 41 37 594
Soo‐Mi Park United Kingdom 15 258 0.7× 464 1.3× 74 1.3× 43 0.9× 46 1.1× 39 794
Pelin Özlem Şimşek‐Kiper Türkiye 14 326 0.9× 377 1.1× 57 1.0× 70 1.4× 48 1.2× 99 662
Isabelle Maystadt Belgium 14 516 1.4× 514 1.5× 51 0.9× 86 1.7× 40 1.0× 32 946
Krzysztof Szczałuba Poland 15 369 1.0× 328 0.9× 43 0.7× 28 0.6× 24 0.6× 57 638
Simon Holden United Kingdom 12 219 0.6× 296 0.8× 88 1.5× 50 1.0× 46 1.1× 35 585
Sahar Mansour United Kingdom 11 288 0.8× 575 1.6× 81 1.4× 43 0.9× 24 0.6× 15 854
Ruen Yao China 15 334 0.9× 385 1.1× 44 0.7× 26 0.5× 24 0.6× 64 657
Nisha Patel Saudi Arabia 17 267 0.7× 428 1.2× 53 0.9× 69 1.4× 39 1.0× 39 727
Kit San Yeung Hong Kong 13 245 0.7× 252 0.7× 57 1.0× 25 0.5× 32 0.8× 29 529
Angus Dobbie United Kingdom 12 284 0.8× 402 1.1× 108 1.8× 22 0.4× 57 1.4× 20 675

Countries citing papers authored by Sérgio B. Sousa

Since Specialization
Citations

This map shows the geographic impact of Sérgio B. Sousa'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 Sérgio B. Sousa with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Sérgio B. Sousa more than expected).

Fields of papers citing papers by Sérgio B. Sousa

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Sérgio B. Sousa. 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 Sérgio B. Sousa. The network helps show where Sérgio B. Sousa may publish in the future.

Co-authorship network of co-authors of Sérgio B. Sousa

This figure shows the co-authorship network connecting the top 25 collaborators of Sérgio B. Sousa. A scholar is included among the top collaborators of Sérgio B. Sousa 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 Sérgio B. Sousa. Sérgio B. Sousa 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.
Hoover‐Fong, Julie, Oliver Semler, Bobbie J. Henry-Barron, et al.. (2025). Considerations for Anthropometry Specific to People with Disproportionate Short Stature. Advances in Therapy. 42(3). 1291–1311.
2.
Sentchordi, Lucia, Francisca Díaz, Silvia Modamio‐Høybjør, et al.. (2025). Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions. Clinical Endocrinology. 103(2). 177–184.
3.
Beger, Christoph, et al.. (2025). Real-World Safety and Effectiveness of Vosoritide in Achondroplasia: Results from a Single Center in Portugal. Advances in Therapy. 42(8). 3726–3742.
4.
Guillén‐Navarro, Encarna, Moeenaldeen AlSayed, Tawfeg Ben‐Omran, et al.. (2025). Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?. Orphanet Journal of Rare Diseases. 20(1). 114–114.
5.
Fauroux, Brigitte, Moeenaldeen AlSayed, Tawfeg Ben‐Omran, et al.. (2025). Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum. Orphanet Journal of Rare Diseases. 20(1). 233–233.
6.
Fredwall, Svein O., Moeenaldeen AlSayed, Tawfeg Ben‐Omran, et al.. (2024). European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia. Advances in Therapy. 41(7). 2545–2558. 3 indexed citations
7.
Dias, Patrícia, Joana Rosmaninho‐Salgado, Miriam Aza‐Carmona, et al.. (2023). Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant. European Journal of Medical Genetics. 66(11). 104867–104867. 2 indexed citations
8.
Irving, Melita, Moeenaldeen AlSayed, Paul Arundel, et al.. (2023). European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis. Orphanet Journal of Rare Diseases. 18(1). 219–219. 8 indexed citations
9.
Cormier‐Daire, Valérie, Moeenaldeen AlSayed, Tawfeg Ben‐Omran, et al.. (2022). Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations. Orphanet Journal of Rare Diseases. 17(1). 293–293. 6 indexed citations
10.
Fredwall, Svein O., Moeenaldeen AlSayed, Tawfeg Ben‐Omran, et al.. (2022). Optimising care and follow-up of adults with achondroplasia. Orphanet Journal of Rare Diseases. 17(1). 318–318. 6 indexed citations
11.
Cormier‐Daire, Valérie, Moeenaldeen AlSayed, Tawfeg Ben‐Omran, et al.. (2021). The first European consensus on principles of management for achondroplasia. Orphanet Journal of Rare Diseases. 16(1). 333–333. 28 indexed citations
12.
Peter, Virginie G., Mathieu Quinodoz, Jorge Pinto‐Basto, et al.. (2019). The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene. Genetics in Medicine. 21(12). 2734–2743. 35 indexed citations
13.
Sousa, Sérgio B. & Raoul C. M. Hennekam. (2014). Phenotype and genotype in Nicolaides–Baraitser syndrome. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 166(3). 302–314. 48 indexed citations
14.
Sousa, Sérgio B., Fabiana Ramos, Paula Garcia, et al.. (2013). Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters. American Journal of Medical Genetics Part A. 164(1). 10–14. 8 indexed citations
15.
Rhayem, Yara, Sérgio B. Sousa, Rossella Libé, et al.. (2013). Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion. European Journal of Endocrinology. 170(1). 151–160. 7 indexed citations
16.
Beleza‐Meireles, Ana, et al.. (2011). Novel deletion encompassing exons 5–12 of the UBE3A gene in a girl with Angelman syndrome. European Journal of Medical Genetics. 54(3). 348–350. 3 indexed citations
17.
Garcia, Paula, et al.. (2010). Skeletal complications in mucopolysaccharidosis VI patients: Case reports. Journal of Pediatric Rehabilitation Medicine. 3(1). 63–69. 11 indexed citations
18.
Sousa, Sérgio B., Isabelle Russell‐Eggitt, Christine M Hall, Bryan D. Hall, & Raoul C. M. Hennekam. (2008). Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy. American Journal of Medical Genetics Part A. 146A(24). 3186–3194. 8 indexed citations
19.
Sousa, Sérgio B., Lina Ramos, Wiktor Borozdin, et al.. (2008). Tetra‐amelia and lung hypo/aplasia syndrome: New case report and review. American Journal of Medical Genetics Part A. 146A(21). 2799–2803. 17 indexed citations
20.
Zweier, Christiane, Maarit Peippo, Juliane Hoyer, et al.. (2007). Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome). The American Journal of Human Genetics. 80(5). 994–1001. 215 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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