Christel Thauvin‐Robinet

8.2k total citations
80 papers, 1.4k citations indexed

About

Christel Thauvin‐Robinet is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Christel Thauvin‐Robinet has authored 80 papers receiving a total of 1.4k indexed citations (citations by other indexed papers that have themselves been cited), including 51 papers in Genetics, 37 papers in Molecular Biology and 18 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Christel Thauvin‐Robinet's work include Genomic variations and chromosomal abnormalities (15 papers), Genomics and Rare Diseases (12 papers) and Genetics and Neurodevelopmental Disorders (12 papers). Christel Thauvin‐Robinet is often cited by papers focused on Genomic variations and chromosomal abnormalities (15 papers), Genomics and Rare Diseases (12 papers) and Genetics and Neurodevelopmental Disorders (12 papers). Christel Thauvin‐Robinet collaborates with scholars based in France, United Kingdom and United States. Christel Thauvin‐Robinet's co-authors include Laurence Faivre, Frédéric Huet, Albert David, Alice Masurel‐Paulet, Philippe Latour, Martine Le Merrer, Valérie Cormier‐Daire, P Soichot, Dominique Martin‐Coignard and Patrick Callier and has published in prestigious journals such as Nature Genetics, PLoS ONE and Neurology.

In The Last Decade

Christel Thauvin‐Robinet

79 papers receiving 1.3k citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Christel Thauvin‐Robinet France 21 762 532 166 155 116 80 1.4k
Nara Sobreira United States 19 690 0.9× 671 1.3× 113 0.7× 68 0.4× 92 0.8× 61 1.3k
Tommaso Pippucci Italy 23 708 0.9× 663 1.2× 63 0.4× 167 1.1× 72 0.6× 71 1.5k
Victoria Mok Siu Canada 25 1.3k 1.6× 868 1.6× 108 0.7× 150 1.0× 138 1.2× 73 1.9k
Bruno Leheup France 29 1.1k 1.5× 758 1.4× 239 1.4× 114 0.7× 149 1.3× 97 2.2k
Anju Shukla India 18 610 0.8× 496 0.9× 89 0.5× 59 0.4× 100 0.9× 112 1.2k
Nadia Sakati Saudi Arabia 22 819 1.1× 546 1.0× 215 1.3× 65 0.4× 160 1.4× 78 1.7k
Alice Goldenberg France 20 678 0.9× 565 1.1× 100 0.6× 124 0.8× 91 0.8× 49 1.1k
Isabelle Thiffault United States 23 822 1.1× 482 0.9× 67 0.4× 224 1.4× 85 0.7× 65 1.4k
Claudio Graziano Italy 20 695 0.9× 325 0.6× 91 0.5× 104 0.7× 45 0.4× 77 1.2k
Göknur Haliloğlu Türkiye 23 922 1.2× 259 0.5× 100 0.6× 224 1.4× 150 1.3× 116 1.7k

Countries citing papers authored by Christel Thauvin‐Robinet

Since Specialization
Citations

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

Fields of papers citing papers by Christel Thauvin‐Robinet

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Christel Thauvin‐Robinet. 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 Christel Thauvin‐Robinet. The network helps show where Christel Thauvin‐Robinet may publish in the future.

Co-authorship network of co-authors of Christel Thauvin‐Robinet

This figure shows the co-authorship network connecting the top 25 collaborators of Christel Thauvin‐Robinet. A scholar is included among the top collaborators of Christel Thauvin‐Robinet 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 Christel Thauvin‐Robinet. Christel Thauvin‐Robinet 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.
Bonniaud, B., Maxime Luu, Catherine Cormier, et al.. (2025). Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report. European Journal of Medical Genetics. 75. 105012–105012.
2.
Callier, Patrick, Renaud Touraine, Antonio Vitobello, et al.. (2024). De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling. American Journal of Medical Genetics Part A. 197(4). e63923–e63923. 1 indexed citations
3.
Delahaye‐Duriez, Andrée, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, et al.. (2024). Expanding MNS1 Heterotaxy Phenotype. American Journal of Medical Genetics Part A. 197(1). e63862–e63862. 1 indexed citations
4.
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
5.
6.
Chatron, Nicolas, C. Zawadzki, Anne Lienhart, et al.. (2024). Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A. Journal of Thrombosis and Haemostasis. 22(6). 1616–1626. 3 indexed citations
7.
Lacroix, Agnès, R. Coutant, Bruno Donadille, et al.. (2023). Executive functioning in adolescents and adults with Silver-Russell syndrome. PLoS ONE. 18(1). e0279745–e0279745. 1 indexed citations
8.
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
9.
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
10.
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
11.
Theiler, Martin, Lisa Weibel, Stéphanie Christen‐Zaech, et al.. (2021). Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations. Journal of the European Academy of Dermatology and Venereology. 35(10). 2085–2090. 4 indexed citations
12.
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
13.
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
14.
Bris, Céline, Vincent Procaccio, Patrizia Amati‐Bonneau, et al.. (2019). Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. Human Mutation. 40(12). 2430–2443. 7 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.
Bruel, Ange‐Line, Jonathan Lévy, Narcisse Elenga, et al.. (2018). INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report. Clinical Genetics. 93(6). 1205–1209. 6 indexed citations
17.
Masurel‐Paulet, Alice, Vera M. Kalscheuer, Nicolas Lebrun, et al.. (2013). Expanding the clinical phenotype of patients with a ZDHHC9 mutation. American Journal of Medical Genetics Part A. 164(3). 789–795. 28 indexed citations
18.
Rötig, Agnès, Alain Fischer, Pascale de Lonlay, et al.. (2008). Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome. European Journal of Medical Genetics. 52(1). 23–26. 22 indexed citations
19.
Colombani, Marina, Nicole Laurent, Martine Le Merrer, et al.. (2006). A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. Prenatal Diagnosis. 26(12). 1151–1155. 2 indexed citations
20.
Mosca, A.L., Nicole Laurent, Laurent Guibaud, et al.. (2006). Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?. European Journal of Medical Genetics. 50(1). 48–53. 3 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.

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