Sofia Douzgou
Impact in
- Genetics top 1%
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Psychiatry and Mental health top 5%
- Epilepsy research and treatment
Papers in
- Genetics 72
- Genomics and Rare Diseases 43
- Genetics and Neurodevelopmental Disorders 26
- Genomic variations and chromosomal abnormalities 6
- Ocular Disorders and Treatments 6
- Craniofacial Disorders and Treatments 5
- Connective tissue disorders research 5
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- Congenital limb and hand anomalies 5
- Co-authors
- Jill Clayton‐Smith (14 shared papers)Bronwyn A. Kerr (5 shared papers)MB Petersen (1 shared paper)Bruno Dallapiccola (7 shared papers)Jane L. Ashworth (7 shared papers)Graeme Charles M. Black (7 shared papers)Lorenzo Sinibaldi (3 shared papers)Rita Mingarelli (3 shared papers)
- Journals
- The American Journal of Human Genetics (11 papers)Clinical Genetics (9 papers)European Journal of Human Genetics (7 papers)Genetics in Medicine (6 papers)European Journal of Medical Genetics (4 papers)
- Partner nations
- United KingdomUnited StatesItaly
In The Last Decade
Sofia Douzgou
98 papers receiving 3.6k citations
Sofia Douzgou's Hit Papers
Peers
Comparison fields: 5 of 124
- Genetics 1.9k
- Psychiatry and Mental health 347
- Health Informatics 46
- Developmental Biology 34
- Clinical Biochemistry 70
Countries citing papers authored by Sofia Douzgou
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
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-authors
The 25 scholars most cited alongside Sofia Douzgou, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.
All Works
Showing the 20 most-cited of 98 papers — load more, or switch the sort, to bring in the rest.
| # | Work | ||
|---|---|---|---|
| 1 | Whole-genome sequencing of patients with rare diseases in a national health system Hit paper breakdown → | 2020 | 418 |
| 2 | Evidence for 28 genetic disorders discovered by combining healthcare and research data Hit paper breakdown → | 2020 | 417 |
| 3 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. Hit paper breakdown → | 2021 | 290 |
| 4 | 2017 | 213 | |
| 5 | 2019 | 178 | |
| 6 | 2017 | 113 | |
| 7 | 2018 | 95 | |
| 8 | 2011 | 83 | |
| 9 | 2008 | 75 | |
| 10 | 2017 | 73 | |
| 11 | 2020 | 71 | |
| 12 | 2019 | 65 | |
| 13 | 2019 | 63 | |
| 14 | 2014 | 57 | |
| 15 | 2017 | 57 | |
| 16 | 2019 | 49 | |
| 17 | 2019 | 48 | |
| 18 | 2007 | 46 | |
| 19 | 2011 | 45 | |
| 20 | 2024 | 45 |
About Sofia Douzgou
Sofia Douzgou is a scholar working on Genetics, Developmental Biology, Molecular Biology, Psychiatry and Mental health and Health Informatics, having authored 98 papers that have together received 3.7k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (43 papers), Genetics and Neurodevelopmental Disorders (26 papers), Retinal Development and Disorders (6 papers), Genomic variations and chromosomal abnormalities (6 papers), Ocular Disorders and Treatments (6 papers), Craniofacial Disorders and Treatments (5 papers), Congenital limb and hand anomalies (5 papers) and Connective tissue disorders research (5 papers). The work is most often cited by research in Genetics (1.9k citations), Psychiatry and Mental health (347 citations), Health Informatics (46 citations), Developmental Biology (34 citations) and Clinical Biochemistry (70 citations). Sofia Douzgou has collaborated with scholars based in United Kingdom, United States and Italy. Frequent co-authors include Jill Clayton‐Smith, Bronwyn A. Kerr, MB Petersen, Bruno Dallapiccola, Jane L. Ashworth, Graeme Charles M. Black, Lorenzo Sinibaldi, Rita Mingarelli, Ian Christopher Lloyd and Antonio Rampino. Their work appears in journals such as The American Journal of Human Genetics, Clinical Genetics, European Journal of Human Genetics, Genetics in Medicine and European Journal of Medical Genetics.
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.