Sofia Douzgou

4.8k total citations
49 papers, 679 citations indexed

About

Sofia Douzgou is a scholar working on Genetics, Molecular Biology and Cell Biology. According to data from OpenAlex, Sofia Douzgou has authored 49 papers receiving a total of 679 indexed citations (citations by other indexed papers that have themselves been cited), including 31 papers in Genetics, 26 papers in Molecular Biology and 6 papers in Cell Biology. Recurrent topics in Sofia Douzgou's work include Genomic variations and chromosomal abnormalities (12 papers), Genomics and Rare Diseases (9 papers) and Genetics and Neurodevelopmental Disorders (8 papers). Sofia Douzgou is often cited by papers focused on Genomic variations and chromosomal abnormalities (12 papers), Genomics and Rare Diseases (9 papers) and Genetics and Neurodevelopmental Disorders (8 papers). Sofia Douzgou collaborates with scholars based in United Kingdom, United States and Norway. Sofia Douzgou's co-authors include Jill Clayton‐Smith, MB Petersen, Bronwyn Kerr, Bruno Dallapiccola, Graeme C. Black, Jane Ashworth, Georgina Hall, Jamie M. Ellingford, Rita Mingarelli and Susmito Biswas and has published in prestigious journals such as PLoS ONE, Scientific Reports and Biological Psychiatry.

In The Last Decade

Sofia Douzgou

48 papers receiving 668 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Sofia Douzgou United Kingdom 16 338 321 75 64 57 49 679
Joni A. Turunen Finland 16 240 0.7× 358 1.1× 145 1.9× 92 1.4× 60 1.1× 47 710
Muhammad Mahajnah Israel 16 391 1.2× 281 0.9× 59 0.8× 33 0.5× 83 1.5× 55 831
Maarit Peippo Finland 15 423 1.3× 526 1.6× 113 1.5× 15 0.2× 41 0.7× 24 768
Gladys Ho Australia 19 778 2.3× 855 2.7× 219 2.9× 54 0.8× 102 1.8× 43 1.4k
Estér Coutinho United Kingdom 18 158 0.5× 190 0.6× 92 1.2× 53 0.8× 86 1.5× 36 1.1k
Stacey Clardy United States 18 173 0.5× 120 0.4× 94 1.3× 25 0.4× 71 1.2× 75 1.2k
J Morissette Canada 15 226 0.7× 330 1.0× 28 0.4× 85 1.3× 131 2.3× 38 865
Sunita Venkateswaran Canada 15 333 1.0× 261 0.8× 51 0.7× 8 0.1× 143 2.5× 33 769
Elena Korvatska Switzerland 10 335 1.0× 251 0.8× 108 1.4× 162 2.5× 29 0.5× 11 1.0k
Marzia Pollazzon Italy 14 368 1.1× 494 1.5× 143 1.9× 9 0.1× 25 0.4× 31 692

Countries citing papers authored by Sofia Douzgou

Since Specialization
Citations

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

Fields of papers citing papers by Sofia Douzgou

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Sofia Douzgou. 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 Sofia Douzgou. The network helps show where Sofia Douzgou may publish in the future.

Co-authorship network of co-authors of Sofia Douzgou

This figure shows the co-authorship network connecting the top 25 collaborators of Sofia Douzgou. A scholar is included among the top collaborators of Sofia Douzgou 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 Sofia Douzgou. Sofia Douzgou 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.
Hartman, Adam L., Gareth Baynam, Lara Bloom, et al.. (2024). Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force. European Journal of Medical Genetics. 72. 104977–104977. 2 indexed citations
2.
Bratland, Eirik, et al.. (2024). Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants. Clinical Genetics. 105(6). 661–665. 1 indexed citations
3.
Taylor, Rachel L., Simon G. Williams, Jane Ashworth, et al.. (2022). Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia. Orphanet Journal of Rare Diseases. 17(1). 110–110. 5 indexed citations
4.
Douzgou, Sofia, Sylvia Huisman, Brittany Simpson, et al.. (2022). The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience. European Journal of Human Genetics. 30(7). 841–847. 5 indexed citations
5.
Douzgou, Sofia, Eulàlia Baselga, Moise Danielpour, et al.. (2021). A standard of care for individuals with PIK3CA ‐related disorders: An international expert consensus statement. Clinical Genetics. 101(1). 32–47. 20 indexed citations
6.
Wood, K, Jamie M. Ellingford, Huw B. Thomas, et al.. (2021). Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome. Clinical Genetics. 101(2). 255–259. 4 indexed citations
7.
Berland, Siren, et al.. (2021). The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant. Molecular Case Studies. 7(6). a006121–a006121. 3 indexed citations
8.
Wood, K, Charlie F Rowlands, Huw B. Thomas, et al.. (2020). Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells. PLoS ONE. 15(7). e0233582–e0233582. 14 indexed citations
9.
Douzgou, Sofia, Hui Liang, Kay Metcalfe, et al.. (2019). The clinical presentation caused by truncating CHD8 variants. Clinical Genetics. 96(1). 72–84. 26 indexed citations
10.
Campbell, Patrick, Jamie M. Ellingford, Neil R. A. Parry, et al.. (2019). Clinical and genetic variability in children with partial albinism. Scientific Reports. 9(1). 16576–16576. 30 indexed citations
11.
Haanpää, Maria K., et al.. (2017). Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. American Journal of Medical Genetics Part A. 173(4). 1115–1118. 3 indexed citations
12.
Musleh, Mahmoud, Georgina Hall, I. Christopher Lloyd, et al.. (2016). Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach. Eye. 30(9). 1175–1181. 29 indexed citations
13.
Sarri, Catherine, Sofia Douzgou, Katherine K. Anagnostopoulou, et al.. (2015). 35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome. Cytogenetic and Genome Research. 145(1). 6–13. 1 indexed citations
14.
Bassett, John, Sofia Douzgou, & Bronwyn Kerr. (2015). Severe constipation in a patient with Myhre syndrome. Clinical Dysmorphology. 25(2). 54–57. 5 indexed citations
15.
Pasini, Augusto, Lorenzo Sinibaldi, Claudio Paloscia, et al.. (2013). Neurocognitive effects of methylphenidate on ADHD children with different DAT genotypes: A longitudinal open label trial. European Journal of Paediatric Neurology. 17(4). 407–414. 26 indexed citations
16.
Schanze, Ina, Denny Schanze, Carlos A. Bacino, et al.. (2012). Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. European Journal of Medical Genetics. 56(2). 108–113. 31 indexed citations
17.
Douzgou, Sofia, Catherine Breen, Yanick J. Crow, et al.. (2012). Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies. Archives of Disease in Childhood. 97(9). 812–817. 27 indexed citations
18.
Sarri, Catherine, Sofia Douzgou, Yolanda Gyftodimou, et al.. (2011). Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes. American Journal of Medical Genetics Part A. 155(11). 2841–2854. 5 indexed citations
19.
Douzgou, Sofia, Katarina Lehmann, Rita Mingarelli, Stefan Mundlos, & Bruno Dallapiccola. (2008). Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. American Journal of Medical Genetics Part A. 146A(16). 2116–2121. 15 indexed citations
20.
Flex, Elisabetta, Antonio Pizzuti, Carlo Di Bonaventura, et al.. (2005). LGI1 gene mutation screening in sporadic partial epilepsy with auditory features. Journal of Neurology. 252(1). 62–66. 11 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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