Yannis Duffourd

1.7k total citations
14 papers, 218 citations indexed

About

Yannis Duffourd is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Yannis Duffourd has authored 14 papers receiving a total of 218 indexed citations (citations by other indexed papers that have themselves been cited), including 10 papers in Genetics, 7 papers in Molecular Biology and 3 papers in Surgery. Recurrent topics in Yannis Duffourd's work include Genomics and Rare Diseases (4 papers), Genomic variations and chromosomal abnormalities (4 papers) and Genetics and Neurodevelopmental Disorders (3 papers). Yannis Duffourd is often cited by papers focused on Genomics and Rare Diseases (4 papers), Genomic variations and chromosomal abnormalities (4 papers) and Genetics and Neurodevelopmental Disorders (3 papers). Yannis Duffourd collaborates with scholars based in France, Switzerland and United States. Yannis Duffourd's co-authors include Jean‐Baptiste Rivière, Brian J. O’Roak, Rebecca Barnard, Ryan M. Mulqueen, Raphael Bernier, Éric Fombonne, Laurence Faivre, Laurence Duplomb, P. Vabres and Julien Thévenon and has published in prestigious journals such as Nature Communications, Journal of Clinical Oncology and The American Journal of Human Genetics.

In The Last Decade

Yannis Duffourd

14 papers receiving 217 citations

Peers

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

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14 of 14 papers shown

#	Work	Indexed citations
1	A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome 2025 ·Nature Communications ·(unknown), (unknown), Paul Kuentz, Rachida Tacine, Marie Vincent, S. Barbarot, Fanny Morice‐Picard, F. Boralévi, (unknown), J. Mazereeuw‐Hautier, Yannis Duffourd, Laurence Faivre, Arthur Sorlin, P. Vabres, Jérôme Delon	2
2	Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome 2023 ·Human Molecular Genetics ·Ange‐Line Bruel, (unknown), Lenka Nosková, Irene Valenzuela, Jelena Martinović, Yannis Duffourd, Marie Zikánová, (unknown), Stanislav Kmoch, (unknown), Jingbo Sun, (unknown), (unknown), Christel Thauvin‐Robinet, David K. Breslow	8
3	Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study 2022 ·Frontiers in Genetics ·Christine Binquet, Catherine Lejeune, Laurence Faivre, (unknown), (unknown), (unknown), Jean‐François Deleuze, (unknown), Françis Guillemin, Valérie Seror, Christelle Delmas, Hélène Espérou, Yannis Duffourd, Stanislas Lyonnet, Sylvie Odent, Delphine Héron, Damien Sanlaville, Thierry Frébourg, Bénédicte Gérard, Hélène Dollfus	4
4	Expanding the clinical spectrum of mosaic BRAF skin phenotypes 2021 ·Journal of the European Academy of Dermatology and Venereology ·Arthur Sorlin, Virginie Carmignac, Jeanne Amiel, O. Boccara, Sylvie Fraitag, A. Maruani, Martin Theiler, Lisa Weibel, Yannis Duffourd, C. Philippe, (unknown), Laurence Faivre, Jean‐Baptiste Rivière, P. Vabres, Paul Kuentz	1
5	Severe gynaecological involvement in Proteus Syndrome 2018 ·European Journal of Medical Genetics ·(unknown), (unknown), Paul Kuentz, Yannis Duffourd, Laurence Faivre, (unknown), Nicolas Chassaing, (unknown), P. Vabres, J. Mazereeuw‐Hautier	2
6	Les modifications de pratique clinique liées à l’arrivée du séquençage haut débit dans le diagnostic génétique des maladies du développement 2018 ·Archives de Pédiatrie ·Laurent Demougeot, (unknown), (unknown), (unknown), Julien Thévenon, Yannis Duffourd, Sophie Nambot, Élodie Gautier, Christine Binquet, Massimiliano Rossi, Damien Sanlaville, Sophie Béjean, Christine Peyron, Christel Thauvin‐Robinet, Laurence Faivre	1
7	The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability 2017 ·European Journal of Human Genetics ·(unknown), Tiffany Busa, Dominique P. Germain, Gwenaël Nadeau, Jacques Puechberty, Christine Coubes, Vincent Gâtinois, Pierre Cacciagli, Yannis Duffourd, Jean-Marc Pinard, (unknown), Laurent Villard, Damien Sanlaville, Nicole Philip, Chantal Missirian	22
8	Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder 2017 ·The American Journal of Human Genetics ·(unknown), Rebecca Barnard, Yannis Duffourd, (unknown), Ryan M. Mulqueen, Raphael Bernier, Jean‐Baptiste Rivière, Éric Fombonne, Brian J. O’Roak	114
9	Malformations veineuses liées à des mutations du gène TEK : illustration d’un continuum clinique et génétique à partir d’un cas de syndrome de Bean 2017 ·Annales de Dermatologie et de Vénéréologie ·(unknown), P. Vabres, Virginie Carmignac, Yannis Duffourd, Aline Mahé	1
10	186 Mutational spectrum in PIK3CA -Related Overgrowth Spectrum (PROS) and recommendations for molecular testing 2016 ·Journal of Investigative Dermatology ·Paul Kuentz, Yannis Duffourd, Judith St‐Onge, (unknown), Arthur Sorlin, Christel Thauvin‐Robinet, Julien Thévenon, Jean‐Baptiste Rivière, Laurence Faivre, P. Vabres	1
11	The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families? 2016 ·Journal of Clinical Oncology ·Sarab Lizard, (unknown), (unknown), (unknown), (unknown), (unknown), Catherine Loustalot, Charles Coutant, (unknown), P. Fumoleau, Yannis Duffourd, Laurent Arnould, (unknown), Côme Lepage, Sandy Chevrier, Frédérique Végran, Nicolas Sévenet, François Ghiringhelli, Romain Boidot, Laurence Faivre	1
12	Germline correction of an epimutation related to Silver-Russell syndrome 2015 ·Human Molecular Genetics ·Céline Bruno, Virginie Carmignac, Irène Netchine, Cécile Choux, Yannis Duffourd, Laurence Faivre, Christel Thauvin‐Robinet, Yves Le Bouc, Paul Sagot, Déborah Bourc’his, Patricia Fauque	8
13	Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities 2015 ·Clinical Genetics ·Christel Thauvin‐Robinet, Laurence Duplomb, (unknown), (unknown), Alice Masurel, (unknown), (unknown), (unknown), Judith St‐Onge, Paul Kuentz, Yannis Duffourd, Julien Thévenon, (unknown), Laurence Faivre	16
14	Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma 2014 ·European Journal of Human Genetics ·(unknown), Siham Chafai Elalaoui, Laurence Duplomb, (unknown), Jean‐Baptiste Rivière, Julien Thévenon, Nadège Gigot, Nathalie Marle, Bernard Aral, Yannis Duffourd, Alain Sarasin, Valeria Naim, (unknown), (unknown), Laurent Martin, (unknown), Christel Thauvin, Abdelaziz Sefiani, P. Vabres, Laurence Faivre	37

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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