Stéphanie Efthymiou

4.5k total citations
60 papers, 433 citations indexed

About

Stéphanie Efthymiou is a scholar working on Molecular Biology, Genetics and Cellular and Molecular Neuroscience. According to data from OpenAlex, Stéphanie Efthymiou has authored 60 papers receiving a total of 433 indexed citations (citations by other indexed papers that have themselves been cited), including 35 papers in Molecular Biology, 23 papers in Genetics and 15 papers in Cellular and Molecular Neuroscience. Recurrent topics in Stéphanie Efthymiou's work include Genomics and Rare Diseases (15 papers), Genetics and Neurodevelopmental Disorders (13 papers) and Hereditary Neurological Disorders (10 papers). Stéphanie Efthymiou is often cited by papers focused on Genomics and Rare Diseases (15 papers), Genetics and Neurodevelopmental Disorders (13 papers) and Hereditary Neurological Disorders (10 papers). Stéphanie Efthymiou collaborates with scholars based in United Kingdom, Italy and Pakistan. Stéphanie Efthymiou's co-authors include Henry Houlden, Vincenzo Salpietro, Andreea Manole, Jana Vandrovcová, Conceição Bettencourt, Viorica Chelban, Nicholas Wood, Niccolò E. Mencacci, Tipu Sultan and Oscar D. Bello and has published in prestigious journals such as Brain, Neurology and Annals of Neurology.

In The Last Decade

Stéphanie Efthymiou

53 papers receiving 425 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Stéphanie Efthymiou United Kingdom 11 248 144 136 72 46 60 433
Marie Coutelier France 13 341 1.4× 255 1.8× 107 0.8× 78 1.1× 76 1.7× 15 537
Stefania Magri Italy 13 296 1.2× 271 1.9× 71 0.5× 115 1.6× 66 1.4× 33 477
Maartje Pennings Netherlands 10 134 0.5× 112 0.8× 76 0.6× 48 0.7× 44 1.0× 21 272
Lemuel Racacho Canada 14 262 1.1× 164 1.1× 116 0.9× 192 2.7× 49 1.1× 18 547
Dorota Hoffman‐Zacharska Poland 14 216 0.9× 169 1.2× 126 0.9× 186 2.6× 69 1.5× 53 541
Gong‐Lu Liu China 11 111 0.4× 95 0.7× 77 0.6× 70 1.0× 55 1.2× 20 309
Marcello Scala Italy 15 207 0.8× 53 0.4× 178 1.3× 88 1.2× 16 0.3× 61 513
Yoshio Morimatsu Japan 15 391 1.6× 181 1.3× 140 1.0× 102 1.4× 59 1.3× 28 605
Afagh Alavi Iran 13 236 1.0× 143 1.0× 66 0.5× 134 1.9× 146 3.2× 60 535
Oxana V. Baranova United States 8 364 1.5× 179 1.2× 44 0.3× 94 1.3× 60 1.3× 8 562

Countries citing papers authored by Stéphanie Efthymiou

Since Specialization
Citations

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

Fields of papers citing papers by Stéphanie Efthymiou

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Stéphanie Efthymiou

This figure shows the co-authorship network connecting the top 25 collaborators of Stéphanie Efthymiou. A scholar is included among the top collaborators of Stéphanie Efthymiou 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 Stéphanie Efthymiou. Stéphanie Efthymiou 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.
Zhang, Kejia, Jenna M. Lentini, Jonathan C. Howard, et al.. (2025). Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs. Cell Reports. 44(1). 115092–115092. 5 indexed citations
2.
3.
Rahman, Fatima, Abolfazl Rad, Gabriela Oprea, et al.. (2024). Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism. European Journal of Human Genetics. 33(4). 552–555.
4.
Tomaselli, Pedro José, Christopher J. Record, Natalia Dominik, et al.. (2024). Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country. Brain Communications. 6(6). fcae342–fcae342. 1 indexed citations
5.
Harms, Frederike L., Jessica E. Rexach, Stéphanie Efthymiou, et al.. (2024). Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European Journal of Human Genetics. 32(5). 558–566. 1 indexed citations
6.
Bilgüvar, Kaya, et al.. (2024). Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33. Molecular Syndromology. 16(5). 411–420.
7.
Johnson, Errin, Stéphanie Efthymiou, Tipu Sultan, et al.. (2024). Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum. Antioxidants. 13(6). 685–685. 1 indexed citations
8.
Vishnu, Venugopalan Y., Richard J.L.F. Lemmers, T. Ahmad, et al.. (2024). The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India. European Journal of Human Genetics. 32(9). 1053–1064. 4 indexed citations
9.
Sultan, Tipu, et al.. (2023). Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders. Gene. 899. 148119–148119. 4 indexed citations
10.
Habiba, Umme, Sadiq Noor Khan, Yasir Ali, et al.. (2023). Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families. Epilepsy Research. 201. 107283–107283. 1 indexed citations
11.
Facchini, Stefano, Natalia Dominik, Arianna Manini, et al.. (2023). Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions. Biomolecules. 13(10). 1546–1546. 11 indexed citations
12.
Efthymiou, Stéphanie, Georgios Koutsis, Reza Maroofian, et al.. (2023). Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn. Annals of Clinical and Translational Neurology. 10(10). 1910–1916. 2 indexed citations
13.
Ullah, Ikram, Muhammad Waqas, Muhammad Ilyas, et al.. (2023). A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation. Genes & Diseases. 10(6). 2263–2266. 1 indexed citations
14.
Pipis, Menelaos, Roy Poh, Stéphanie Efthymiou, et al.. (2023). Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. Brain. 146(10). 4025–4032. 3 indexed citations
15.
Efthymiou, Stéphanie, Vykuntaraju K. Gowda, Perumal Varalakshmi, et al.. (2021). Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients. Human Mutation. 42(8). 1015–1029. 3 indexed citations
16.
Ilyas, Muhammad, Musharraf Jelani, Muhammad Nadeem Abbas, et al.. (2021). A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family. Congenital Anomalies. 61(5). 177–182. 4 indexed citations
17.
Mir, Aamir, et al.. (2020). The genetics of intellectual disability: advancing technology and gene editing [version 1; peer review: 2 approved]. UCL Discovery (University College London). 2 indexed citations
18.
Efthymiou, Stéphanie, et al.. (2019). A de novo truncating mutation in ASXL1 associated with segmental overgrowth. UCL Discovery (University College London). 2 indexed citations
19.
Ilyas, Muhammad, Vincenzo Salpietro, Stéphanie Efthymiou, et al.. (2019). Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach. Neurological Sciences. 41(4). 851–857. 4 indexed citations
20.
Niccolini, Flavia, Niccolò E. Mencacci, Tayyabah Yousaf, et al.. (2018). PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology. Movement Disorders. 33(12). 1961–1965. 31 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.

Explore authors with similar magnitude of impact

Breakdown of academic impact, for papers by Marie Coutelier Breakdown of academic impact, for papers by Stefania Magri Breakdown of academic impact, for papers by Maartje Pennings Breakdown of academic impact, for papers by Lemuel Racacho Breakdown of academic impact, for papers by Dorota Hoffman‐Zacharska Breakdown of academic impact, for papers by Gong‐Lu Liu Breakdown of academic impact, for papers by Marcello Scala Breakdown of academic impact, for papers by Yoshio Morimatsu Breakdown of academic impact, for papers by Afagh Alavi Breakdown of academic impact, for papers by Oxana V. Baranova
Rankless by CCL
2026