Yannis Duffourd

1.9k total citations
25 papers, 221 citations indexed

About

Yannis Duffourd is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Yannis Duffourd has authored 25 papers receiving a total of 221 indexed citations (citations by other indexed papers that have themselves been cited), including 16 papers in Genetics, 14 papers in Molecular Biology and 2 papers in Surgery. Recurrent topics in Yannis Duffourd's work include Genomics and Rare Diseases (8 papers), Genetics and Neurodevelopmental Disorders (7 papers) and Genomic variations and chromosomal abnormalities (6 papers). Yannis Duffourd is often cited by papers focused on Genomics and Rare Diseases (8 papers), Genetics and Neurodevelopmental Disorders (7 papers) and Genomic variations and chromosomal abnormalities (6 papers). Yannis Duffourd collaborates with scholars based in France, United States and United Kingdom. Yannis Duffourd's co-authors include Laurence Faivre, Antonio Vitobello, Christophe Philippe, Christel Thauvin‐Robinet, Frédéric Tran Mau‐Them, Sophie Nambot, Ange‐Line Bruel, Martin Chevarin, Paul Kuentz and Arthur Sorlin and has published in prestigious journals such as Neurobiology of Disease, Ultrasound in Obstetrics and Gynecology and Genetics in Medicine.

In The Last Decade

Yannis Duffourd

24 papers receiving 221 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Yannis Duffourd France 10 132 115 28 24 17 25 221
Ange‐Line Bruel France 11 187 1.4× 177 1.5× 28 1.0× 26 1.1× 14 0.8× 28 274
Stephan Frangakis United States 6 145 1.1× 218 1.9× 26 0.9× 17 0.7× 23 1.4× 9 310
Tracy Dudding‐Byth Australia 10 146 1.1× 147 1.3× 24 0.9× 37 1.5× 17 1.0× 18 272
G. Bryce Christensen United States 8 206 1.6× 142 1.2× 18 0.6× 13 0.5× 18 1.1× 12 362
Shams Anazi Saudi Arabia 9 181 1.4× 197 1.7× 20 0.7× 23 1.0× 13 0.8× 10 273
Samantha Penney United States 5 76 0.6× 68 0.6× 22 0.8× 14 0.6× 8 0.5× 5 157
Yoko Hiraki Japan 10 131 1.0× 97 0.8× 10 0.4× 22 0.9× 21 1.2× 17 219
Anne‐Marie Guerrot France 8 84 0.6× 136 1.2× 23 0.8× 20 0.8× 11 0.6× 17 204
James Stavropoulos Canada 6 118 0.9× 182 1.6× 11 0.4× 19 0.8× 10 0.6× 9 239
Haruka Hamanoue Japan 10 84 0.6× 118 1.0× 11 0.4× 33 1.4× 12 0.7× 23 220

Countries citing papers authored by Yannis Duffourd

Since Specialization
Citations

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

Fields of papers citing papers by Yannis Duffourd

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Yannis Duffourd

This figure shows the co-authorship network connecting the top 25 collaborators of Yannis Duffourd. A scholar is included among the top collaborators of Yannis Duffourd 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 Yannis Duffourd. Yannis Duffourd 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.
Chevarin, Martin, Juliette Piard, Quentin Thomas, et al.. (2024). Allelic heterogeneity in a patient with postzygotic MTOR ‐related hypomelanosis of Ito with neurodevelopmental abnormalities. Clinical Genetics. 105(5). 581–583. 2 indexed citations
2.
3.
Bardou, Marc, et al.. (2023). Experience and expectations of pharmacogenetic tests in France. Therapies. 79(3). 341–349. 4 indexed citations
4.
Garde, Aurore, Sandrine Marlin, Sylvain Ernest, et al.. (2022). Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D. American Journal of Medical Genetics Part A. 188(5). 1600–1606. 3 indexed citations
5.
Chevarin, Martin, Antonio Vitobello, Cyril Fournier, et al.. (2022). A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort. European Journal of Human Genetics. 31(7). 761–768. 6 indexed citations
6.
Thomas, Quentin, Céline Verstuyft, Émilie Tisserant, et al.. (2022). Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients. The Pharmacogenomics Journal. 22(5-6). 258–263. 1 indexed citations
7.
Mallet, Delphine, Florence Roucher‐Boulez, Marie Bournez, et al.. (2022). Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants. American Journal of Medical Genetics Part A. 188(12). 3540–3545. 2 indexed citations
8.
Mau‐Them, Frédéric Tran, Yannis Duffourd, Antonio Vitobello, et al.. (2021). Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Molecular Genetics & Genomic Medicine. 9(12). e1836–e1836. 4 indexed citations
9.
Carmignac, Virginie, Arthur Sorlin, Yannis Duffourd, et al.. (2021). Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway. Ultrasound in Obstetrics and Gynecology. 59(4). 532–542. 7 indexed citations
10.
Ebstein, Frédéric, Geoffroy Delplancq, Stéphane Auvin, et al.. (2020). Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. Clinical Genetics. 97(4). 567–575. 18 indexed citations
11.
Assoum, Mirna, Ange‐Line Bruel, Melissa Crenshaw, et al.. (2020). NovelKIAA1033/WASHC4mutations in three patients with syndromic intellectual disability and a review of the literature. American Journal of Medical Genetics Part A. 182(4). 792–797. 10 indexed citations
12.
Delplancq, Geoffroy, Antonio Vitobello, Sophie Nambot, et al.. (2020). Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 184(1). 129–135. 15 indexed citations
13.
Bruel, Ange‐Line, Antonio Vitobello, Frédéric Tran Mau‐Them, et al.. (2020). Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability. Clinical Genetics. 98(5). 433–444. 11 indexed citations
14.
Bouillet, Benjamin, et al.. (2020). Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene. Diabetes & Metabolism. 46(5). 400–402. 9 indexed citations
15.
Bruel, Ange‐Line, Sophie Nambot, Antonio Vitobello, et al.. (2019). Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. European Journal of Human Genetics. 27(10). 1519–1531. 39 indexed citations
16.
Lecoquierre, François, Yannis Duffourd, Antonio Vitobello, et al.. (2019). Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. Genetics in Medicine. 21(11). 2504–2511. 20 indexed citations
17.
Thévenon, Julien, Yannis Duffourd, Sophie Nambot, et al.. (2018). TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. American Journal of Medical Genetics Part A. 176(12). 2813–2818. 12 indexed citations
18.
Lefebvre, Mathilde, Christine Francannet, Hélène Laurichesse, et al.. (2018). Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. American Journal of Medical Genetics Part A. 176(11). 2509–2512. 6 indexed citations
19.
Moutton, Sébastien, Ange‐Line Bruel, Mirna Assoum, et al.. (2018). Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. Clinical Genetics. 93(6). 1172–1178. 17 indexed citations
20.
Yauy, Kévin, Frédéric Tran Mau‐Them, Marjolaine Willems, et al.. (2017). B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. Genetics in Medicine. 20(2). 269–274. 21 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 Ange‐Line Bruel Breakdown of academic impact, for papers by Stephan Frangakis Breakdown of academic impact, for papers by Tracy Dudding‐Byth Breakdown of academic impact, for papers by G. Bryce Christensen Breakdown of academic impact, for papers by Shams Anazi Breakdown of academic impact, for papers by Samantha Penney Breakdown of academic impact, for papers by Yoko Hiraki Breakdown of academic impact, for papers by Anne‐Marie Guerrot Breakdown of academic impact, for papers by James Stavropoulos Breakdown of academic impact, for papers by Haruka Hamanoue
Rankless by CCL
2026