Bruno Leheup

7.9k total citations
97 papers, 2.2k citations indexed

About

Bruno Leheup is a scholar working on Molecular Biology, Genetics and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Bruno Leheup has authored 97 papers receiving a total of 2.2k indexed citations (citations by other indexed papers that have themselves been cited), including 44 papers in Molecular Biology, 41 papers in Genetics and 14 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Bruno Leheup's work include Genomic variations and chromosomal abnormalities (14 papers), Genetics and Neurodevelopmental Disorders (11 papers) and RNA modifications and cancer (10 papers). Bruno Leheup is often cited by papers focused on Genomic variations and chromosomal abnormalities (14 papers), Genetics and Neurodevelopmental Disorders (11 papers) and RNA modifications and cancer (10 papers). Bruno Leheup collaborates with scholars based in France, United States and Canada. Bruno Leheup's co-authors include Céline Bonnet, Philippe Jonveaux, G Grignon, Christophe Philippe, Thierry Forges, Xavier Bertagna, Patricia Monnier‐Barbarino, Philippe Jouvet, Karine Perlemoine and Stanislas Lyonnet and has published in prestigious journals such as Blood, The Journal of Clinical Endocrinology & Metabolism and The American Journal of Human Genetics.

In The Last Decade

Bruno Leheup

93 papers receiving 2.2k citations

Peers

Bruno Leheup
Yoshio Makita Japan
Dvorah Abeliovich Israel
Peter Wieacker Germany
Trevor Cole United Kingdom
Daniel Kelberman United Kingdom
Andreas Winterpacht Germany
Koji Muroya Japan
Nada Al Tassan Saudi Arabia
Israela Lerer Israel
Yisrael Sidis United States
Yoshio Makita Japan
Bruno Leheup
Citations per year, relative to Bruno Leheup Bruno Leheup (= 1×) peers Yoshio Makita

Countries citing papers authored by Bruno Leheup

Since Specialization
Citations

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

Fields of papers citing papers by Bruno Leheup

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Bruno Leheup

This figure shows the co-authorship network connecting the top 25 collaborators of Bruno Leheup. A scholar is included among the top collaborators of Bruno Leheup 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 Bruno Leheup. Bruno Leheup 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.
Brunelle, Perrine, Geneviève Baujat, Caroline Michot, et al.. (2024). Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study. European Journal of Human Genetics. 32(12). 1559–1566.
2.
Bonnet, Céline, Virginie Roth, Yannis Duffourd, et al.. (2024). Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome. American Journal of Medical Genetics Part A. 194(9). e63642–e63642. 1 indexed citations
3.
Kaoma, Tony, François Bernardin, Laurent Vallar, et al.. (2023). Cross‐Talk between miRNAs from the Dlk1‐Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency. Molecular Nutrition & Food Research. 67(21). e2300040–e2300040.
4.
Lambert, Laëtitia, Ange‐Line Bruel, Frédéric Tran Mau‐Them, et al.. (2022). Atypical phenotype of a patient with Bardet–Biedl syndrome type 4. Molecular Genetics & Genomic Medicine. 10(5). e1869–e1869. 1 indexed citations
5.
Cholet, Sophie, Bertrand Isidor, Benjamin Cogné, et al.. (2021). MAN1B1-CDG: Three new individuals and associated biochemical profiles. Molecular Genetics and Metabolism Reports. 28. 100775–100775. 9 indexed citations
6.
Alberto, Jean‐Marc, Marie Meyer, Sébastien Hergalant, et al.. (2021). Vitamin B12 Deficiency Dysregulates m6A mRNA Methylation of Genes Involved in Neurological Functions. Molecular Nutrition & Food Research. 65(17). e2100206–e2100206. 16 indexed citations
7.
Roucher‐Boulez, Florence, Dinane Samara‐Boustani, Pierre‐François Souchon, et al.. (2016). NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects. European Journal of Endocrinology. 175(1). 73–84. 54 indexed citations
8.
Guissart, Claire, Nathalie Drouot, İbrahim Öncel, et al.. (2015). Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). European Journal of Human Genetics. 24(8). 1154–1159. 15 indexed citations
9.
Antony‐Debré, Iléana, Nathalie Balayn, Dominique Bluteau, et al.. (2014). Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia. Blood. 125(6). 930–940. 71 indexed citations
10.
Guissart, Claire, Bruno Leheup, Nathalie Drouot, et al.. (2014). Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. Human Molecular Genetics. 24(2). 463–470. 37 indexed citations
11.
Zankl, Andreas, Emma L. Duncan, Paul Leo, et al.. (2014). Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB. The American Journal of Human Genetics. 94(4). 643–643. 3 indexed citations
12.
Wiedemann, Arnaud, Bruno Leheup, Shyue-Fang Battaglia-Hsu, et al.. (2013). Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?. Molecular Genetics and Metabolism. 110. S62–S65. 5 indexed citations
13.
Aliferis, Konstantinos A., Corinne Stoetzel, Valérie Pelletier, et al.. (2011). A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. Ophthalmic Genetics. 32(4). 250–255. 14 indexed citations
14.
Forges, Thierry, Patricia Monnier, Bruno Leheup, et al.. (2010). Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia. Fertility and Sterility. 95(1). 290.e1–290.e3. 11 indexed citations
15.
Mannstadt, Michael, Guylène Bertrand, Mihaela Mureşan, et al.. (2008). Dominant-Negative GCMB Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism. The Journal of Clinical Endocrinology & Metabolism. 93(9). 3568–3576. 53 indexed citations
16.
Echaniz‐Laguna, Andoni, Bertrand Degos, Céline Bonnet, et al.. (2006). NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement. Neuromuscular Disorders. 17(2). 163–168. 36 indexed citations
17.
Bonnet, Céline, et al.. (2006). Pure de-novo 5 Mb duplication at Xp11.22–p11.23 in a male: phenotypic and molecular characterization. Journal of Human Genetics. 51(9). 815–821. 29 indexed citations
18.
Dauça, Michel, et al.. (1996). Peroxisomes and Peroxisomal Enzymes in the Human Fetal Small Intestine. Neonatology. 69(1). 12–21. 8 indexed citations
19.
Blum, Andrea, et al.. (1990). Prenatal echographic diagnosis of corpus callosum agenesis. The Nancy experience 1982-1989.. PubMed. 1(2). 115–26. 25 indexed citations
20.
Pierson, M, et al.. (1989). [Adynamia episodica hereditaria: Gamstorp's disease or Eulenburg's paramyotonia?].. PubMed. 37(4-5). 379–87. 2 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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