Sofia Douzgou

4.8k citations

49 papers · 679 indexed · h-index 16

Impact in

Genetics top 10%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Ocular Disorders and Treatments
Ophthalmology top 5%

Papers in ⓘ

Genetics 31
- Genomic variations and chromosomal abnormalities 12
- Genomics and Rare Diseases 9
- Genetics and Neurodevelopmental Disorders 8
- Genetic and Kidney Cyst Diseases 5
- BRCA gene mutations in cancer 4
- Ocular Disorders and Treatments 4
Molecular Biology 26
- Connexins and lens biology 4
- RNA modifications and cancer 4

Co-authors: Jill Clayton‐Smith (13 shared papers)Bronwyn Kerr (5 shared papers)MB Petersen (1 shared paper)Bruno Dallapiccola (6 shared papers)Jane Ashworth (7 shared papers)Graeme C. Black (7 shared papers)Georgina Hall (5 shared papers)Susmito Biswas (4 shared papers)
Journals: Clinical Genetics (8 papers)European Journal of Human Genetics (4 papers)European Journal of Medical Genetics (4 papers)American Journal of Medical Genetics Part C Seminars in Medical Genetics (2 papers)Scientific Reports (1 paper)
Partner nations: United Kingdom United States Norway

In The Last Decade

Sofia Douzgou

48 papers receiving 668 citations

Peers

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-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.

Border = papers with Sofia Douzgou Line = papers co-authored together Sofia Douzgou links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 49 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Epistasis between Dopamine Regulating Genes Identifies a Nonlinear Response of the Human Hippocampus During Memory Tasks Biological Psychiatry ·Alessandro Bertolino, Annabella Di Giorgio, Giuseppe Blasi, Fabio Sambataro, Grazia Caforio, Lorenzo Sinibaldi, Valeria Latorre, Antonio Rampino, Paolo Taurisano, Leonardo Fazio, Raffaella Romano, Sofia Douzgou, Teresa Popolizio, Bhaskar Kolachana, Marcello Nardini, Daniel R. Weinberger, Bruno Dallapiccola	2008	70
2	Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease Ophthalmology ·Rachel L. Taylor, Neil R. A. Parry, Stephanie Barton, Christopher Campbell, Claire Delaney, Jamie M. Ellingford, Georgina Hall, Claire Hardcastle, Jiten Morarji, Elisabeth J. Nichol, Lindsi C. Williams, Sofia Douzgou, Jill Clayton‐Smith, Simon Ramsden, Vinod Sharma, Susmito Biswas, Iva Lloyd, Jane Ashworth, Graeme C. Black, Panagiotis I. Sergouniotis	2017	46
3	Clinical utility of genetic testing in 201 preschool children with inherited eye disorders Genetics in Medicine ·Eva Lenassi, Jill Clayton‐Smith, Sofia Douzgou, Simon Ramsden, Stuart Ingram, Georgina Hall, Claire Hardcastle, Tracy Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William Newman, Cecilia Fenerty, Vinod Sharma, Iva Lloyd, Susmito Biswas, Jane Ashworth, Graeme C. Black, Panagiotis I. Sergouniotis	2019	40
4	Clinical variability of genetic isolates of Cohen syndrome Clinical Genetics ·Sofia Douzgou, MB Petersen	2011	38
5	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 ·Ina Schanze, Denny Schanze, Carlos A. Bacino, Sofia Douzgou, Bronwyn Kerr, Martin Zenker	2012	31
6	Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements Journal of Pediatric Genetics ·Irena Vrečar, Josie Innes, Elizabeth A. Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton‐Smith, Sofia Douzgou	2017	31
7	Clinical and genetic variability in children with partial albinism Scientific Reports ·Patrick Campbell, Jamie M. Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon Ramsden, Theodora Gale, Georgina Hall, Katherine R. Smith, Dalia Kasperavičiūtė, Ellen Thomas, Iva Lloyd, Sofia Douzgou, Jill Clayton‐Smith, Susmito Biswas, Jane Ashworth, Graeme C. Black, Panagiotis I. Sergouniotis	2019	30
8	Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach Eye ·Mahmoud Musleh, Georgina Hall, I. Christopher Lloyd, Rachel Gillespie, S. Waller, Sofia Douzgou, Jill Clayton‐Smith, Elias Kehdi, Graeme C. Black, Jane Ashworth	2016	29
9	Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies Archives of Disease in Childhood ·Sofia Douzgou, Catherine Breen, Yanick J. Crow, Kate Chandler, Kay Metcalfe, Elizabeth A. Jones, Bronwyn Kerr, Jill Clayton‐Smith	2012	27
10	The clinical presentation caused by truncating CHD8 variants Clinical Genetics ·Sofia Douzgou, Hui Liang, Kay Metcalfe, Suresh Somarathi, Marc Tischkowitz, Mohamed Wafik, Usha Kini, Shane McKee, Laura Yates, Marta Bertoli, Sally Ann Lynch, Susan Holder, (unknown), (unknown)	2019	26
11	Neurocognitive effects of methylphenidate on ADHD children with different DAT genotypes: A longitudinal open label trial European Journal of Paediatric Neurology ·Augusto Pasini, Lorenzo Sinibaldi, Claudio Paloscia, Sofia Douzgou, Mariabernarda Pitzianti, Elena Romeo, Paolo Curatolo, Antonio Pizzuti	2013	26
12	Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth Clinical Genetics ·John McDermott, Nicholas Hickson, Indraneel Banerjee, Philip Murray, Dipak Ram, K Metcalfe, Jill Clayton‐Smith, Sofia Douzgou	2017	21
13	A standard of care for individuals with PIK3CA ‐related disorders: An international expert consensus statement Clinical Genetics ·Sofia Douzgou, Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler‐Noreuil, Paul Kuentz, Grazia M.S. Mancini, Marie‐Cécile Manière, Víctor Martínez‐Glez, Victoria Parker, Robert K. Semple, Siddharth Srivastava, P. Vabres, Marie‐Claire Y. de Wit, John M. Graham, Jill Clayton‐Smith, Ghayda Mirzaa, Leslie G. Biesecker	2021	20
14	Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease European Journal of Human Genetics ·Omamah A. Jiman, Rachel L. Taylor, Eva Lenassi, Jill Smith, Sofia Douzgou, Jamie M. Ellingford, Stephanie Barton, Claire Hardcastle, Tracy Fletcher, Christopher Campbell, Jane Ashworth, Susmito Biswas, Simon Ramsden, Forbes Manson, Graeme C. Black	2019	20
15	The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations Clinical Dysmorphology ·Allan Bayat, Bronwyn Kerr, Sofia Douzgou	2017	16
16	Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia American Journal of Medical Genetics Part A ·Sofia Douzgou, Katarina Lehmann, Rita Mingarelli, Stefan Mundlos, Bruno Dallapiccola	2008	15
17	Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview Clinical Dysmorphology ·Sofia Douzgou, Rita Mingarelli, Bruno Dallapiccola	2009	15
18	Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells PLoS ONE ·K Wood, Charlie F Rowlands, Huw B. Thomas, Steven Paul Woods, Julieta O’Flaherty, Sofia Douzgou, Susan J. Kimber, William G. Newman, Raymond T. O’Keefe	2020	14
19	Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism Journal of Endocrinological Investigation ·Daniela Zuccarello, Eleonora Morini, Sofia Douzgou, Alberto Ferlin, Antonio Pizzuti, D. C. Salpietro, Carlo Foresta, Bruno Dallapiccola	2004	14
20	LGI1 gene mutation screening in sporadic partial epilepsy with auditory features Journal of Neurology ·Elisabetta Flex, Antonio Pizzuti, Carlo Di Bonaventura, Sofia Douzgou, Gabriella Egeo, Jinane Fattouch, M. Manfredi, Bruno Dallapiccola, A. T. Giallonardo	2005	11

About Sofia Douzgou

Sofia Douzgou is a scholar working on Genetics, Molecular Biology, Cell Biology, Surgery and Pediatrics, Perinatology and Child Health, having authored 49 papers that have together received 679 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (12 papers), Genomics and Rare Diseases (9 papers), Genetics and Neurodevelopmental Disorders (8 papers), Genetic and Kidney Cyst Diseases (5 papers), BRCA gene mutations in cancer (4 papers), Ocular Disorders and Treatments (4 papers), Connexins and lens biology (4 papers) and RNA modifications and cancer (4 papers). The work is most often cited by research in Genetics (321 citations), Ophthalmology (64 citations), Molecular Biology (338 citations), Pharmacy (20 citations) and Cognitive Neuroscience (75 citations). Sofia Douzgou has collaborated with scholars based in United Kingdom, United States and Norway. Frequent co-authors include Jill Clayton‐Smith, Bronwyn Kerr, MB Petersen, Bruno Dallapiccola, Jane Ashworth, Graeme C. Black, Georgina Hall, Susmito Biswas, Rita Mingarelli and Simon Ramsden. Their work appears in journals such as Clinical Genetics, European Journal of Human Genetics, European Journal of Medical Genetics, American Journal of Medical Genetics Part C Seminars in Medical Genetics and Scientific Reports.

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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