Bénédicte Demeer

1.8k total citations
22 papers, 373 citations indexed

About

Bénédicte Demeer is a scholar working on Genetics, Molecular Biology and Genetics. According to data from OpenAlex, Bénédicte Demeer has authored 22 papers receiving a total of 373 indexed citations (citations by other indexed papers that have themselves been cited), including 17 papers in Genetics, 8 papers in Molecular Biology and 5 papers in Genetics. Recurrent topics in Bénédicte Demeer's work include Genomic variations and chromosomal abnormalities (8 papers), Congenital limb and hand anomalies (3 papers) and Genetic Syndromes and Imprinting (3 papers). Bénédicte Demeer is often cited by papers focused on Genomic variations and chromosomal abnormalities (8 papers), Congenital limb and hand anomalies (3 papers) and Genetic Syndromes and Imprinting (3 papers). Bénédicte Demeer collaborates with scholars based in France, Belgium and United Kingdom. Bénédicte Demeer's co-authors include Michèle Mathieu‐Dramard, Miikka Vikkula, Nicole Revençu, Bénédicte Bayet, Raphaël Helaers, Bernard Devauchelle, Joris Andrieux, Florence Petit, Odile Boute and Ghislaine Plessis and has published in prestigious journals such as Human Molecular Genetics, Journal of Bone and Mineral Research and eLife.

In The Last Decade

Bénédicte Demeer

22 papers receiving 337 citations

Peers

Bénédicte Demeer
Ho‐Ming Luk China
Janice C. Palumbos United States
Herbert Reichenbach Germany
Joanna Wiszniewska United States
Chad Haldeman‐Englert United States
Anna Capalbo Italy
Barbara Oehl‐Jaschkowitz Germany
Erica H. Gerkes Netherlands
Nicole Maas Belgium
Kelly E. Jackson United States
Ho‐Ming Luk China
Bénédicte Demeer
Citations per year, relative to Bénédicte Demeer Bénédicte Demeer (= 1×) peers Ho‐Ming Luk

Countries citing papers authored by Bénédicte Demeer

Since Specialization
Citations

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

Fields of papers citing papers by Bénédicte Demeer

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Bénédicte Demeer

This figure shows the co-authorship network connecting the top 25 collaborators of Bénédicte Demeer. A scholar is included among the top collaborators of Bénédicte Demeer 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 Bénédicte Demeer. Bénédicte Demeer 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.
Tusseau, Maud, Mélanie Eyries, Nicolas Chatron, et al.. (2024). Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families. European Journal of Medical Genetics. 68. 104919–104919. 3 indexed citations
2.
Arashiki, Nobuto, Lena‐Luise Becker, Jonathan Lévy, et al.. (2022). Monoallelic CRMP1 gene variants cause neurodevelopmental disorder. eLife. 11. 5 indexed citations
3.
Van‐Gils, Julien, Sophie Naudion, Jérôme Toutain, et al.. (2019). Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations. Clinical Genetics. 95(3). 420–426. 8 indexed citations
4.
Demeer, Bénédicte, Nicole Revençu, Raphaël Helaers, et al.. (2019). Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients. Genes. 10(10). 833–833. 11 indexed citations
5.
Molin, Arnaud, Cindy Colson, Nadia Coudray, et al.. (2019). Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations. Journal of Bone and Mineral Research. 35(5). 913–919. 9 indexed citations
6.
Demeer, Bénédicte, Nicole Revençu, Raphaël Helaers, et al.. (2018). Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. Journal of Medical Genetics. 55(7). 449–458. 66 indexed citations
7.
Demeer, Bénédicte, Nicole Revençu, Raphaël Helaers, et al.. (2018). Unmasking familial CPX by WES and identification of novel clinical signs. American Journal of Medical Genetics Part A. 176(12). 2661–2667. 4 indexed citations
8.
Heide, Solveig, Sandra Chantot‐Bastaraud, Boris Keren, et al.. (2017). Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. Journal of Medical Genetics. 55(3). 205–213. 34 indexed citations
9.
Klein, Céline, Bénédicte Demeer, Michèle Mathieu‐Dramard, et al.. (2017). Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review. American Journal of Medical Genetics Part A. 173(11). 2923–2946. 5 indexed citations
10.
Plaisancié, Julie, Dominique Brémond‐Gignac, Bénédicte Demeer, et al.. (2016). Incomplete penetrance of biallelic ALDH1A3 mutations. European Journal of Medical Genetics. 59(4). 215–218. 15 indexed citations
11.
Jedraszak, Guillaume, Bénédicte Demeer, Michèle Mathieu‐Dramard, et al.. (2015). Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients. American Journal of Medical Genetics Part A. 167(3). 504–511. 17 indexed citations
12.
Dakpé, Stéphanie, Bénédicte Demeer, C. Cordonnier, & B. Devauchelle. (2014). Emergency management of a congenital teratoma of the oral cavity at birth and three-year follow-up. International Journal of Oral and Maxillofacial Surgery. 43(4). 433–436. 6 indexed citations
13.
Mégarbané, André, Bénédicte Demeer, Paule Bénit, et al.. (2013). KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome. Human Molecular Genetics. 22(12). 2387–2399. 24 indexed citations
14.
Jedraszak, Guillaume, M Girard, D. Djeddi, et al.. (2013). A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation. American Journal of Medical Genetics Part A. 164(3). 774–777. 5 indexed citations
15.
16.
Demeer, Bénédicte, Cédric Le Caignec, Bertrand Isidor, et al.. (2012). A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. European Journal of Medical Genetics. 56(3). 163–170. 41 indexed citations
17.
Petit, Florence, Joris Andrieux, Bénédicte Demeer, et al.. (2012). Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis. European Journal of Medical Genetics. 56(2). 88–92. 11 indexed citations
18.
Demeer, Bénédicte, Joris Andrieux, Aline Receveur, et al.. (2012). Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype. European Journal of Medical Genetics. 56(1). 26–31. 41 indexed citations
19.
Cossée, Mireille, Laurence Faivre, Christophe Philippe, et al.. (2010). ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. American Journal of Medical Genetics Part A. 155(1). 98–105. 21 indexed citations
20.
Cossée, Mireille, Bénédicte Demeer, Patricia Blanchet, et al.. (2006). Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. European Journal of Human Genetics. 14(4). 418–425. 19 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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