Ellen van Beusekom

3.2k total citations · 1 hit paper
15 papers, 1.4k citations indexed

About

Ellen van Beusekom is a scholar working on Molecular Biology, Genetics and Surgery. According to data from OpenAlex, Ellen van Beusekom has authored 15 papers receiving a total of 1.4k indexed citations (citations by other indexed papers that have themselves been cited), including 10 papers in Molecular Biology, 4 papers in Genetics and 3 papers in Surgery. Recurrent topics in Ellen van Beusekom's work include Mitochondrial Function and Pathology (3 papers), Muscle Physiology and Disorders (3 papers) and RNA Research and Splicing (3 papers). Ellen van Beusekom is often cited by papers focused on Mitochondrial Function and Pathology (3 papers), Muscle Physiology and Disorders (3 papers) and RNA Research and Splicing (3 papers). Ellen van Beusekom collaborates with scholars based in Netherlands, United States and Türkiye. Ellen van Beusekom's co-authors include Hans van Bokhoven, Han G. Brunner, Jacopo Celli, Hülya Kayserili, Bru Cormand, Sophie Currier, William B. Dobyns, David Chitayat, Christopher A. Walsh and Thomas Voït and has published in prestigious journals such as Science, Nature Genetics and Brain.

In The Last Decade

Ellen van Beusekom

13 papers receiving 1.4k citations

Hit Papers

Mutations in the O-Mannosyltransferase Gene POMT1 Give Ri... 2002 2026 2010 2018 2002 100 200 300 400 500
What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

  1. Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
    2002 519 citations Sophie Currier, Alice Steinbrecher et al. The American Journal of Human Genetics profile →

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Ellen van Beusekom Netherlands 10 1.1k 273 187 187 134 15 1.4k
Hiroki Kano Japan 12 1.1k 1.0× 247 0.9× 149 0.8× 136 0.7× 70 0.5× 15 1.3k
Francesca Cole United States 20 2.2k 2.1× 636 2.3× 155 0.8× 258 1.4× 76 0.6× 30 2.5k
Ling T. Guo United States 19 880 0.8× 213 0.8× 118 0.6× 258 1.4× 167 1.2× 74 1.2k
Joseph C. Giacalone United States 19 1.3k 1.2× 463 1.7× 149 0.8× 88 0.5× 48 0.4× 37 1.7k
Antoaneta Mincheva Germany 21 992 0.9× 380 1.4× 160 0.9× 95 0.5× 151 1.1× 41 1.5k
Rieko Ajima Japan 17 1.2k 1.1× 291 1.1× 76 0.4× 221 1.2× 154 1.1× 29 1.6k
Michael W. Glynn United States 7 2.1k 1.9× 226 0.8× 66 0.4× 253 1.4× 151 1.1× 8 2.5k
Élodie Gautier France 10 449 0.4× 206 0.8× 115 0.6× 93 0.5× 54 0.4× 19 1.1k
An Langeveld Netherlands 19 1.3k 1.2× 437 1.6× 56 0.3× 114 0.6× 182 1.4× 22 1.6k
Bradley L. Hodges United States 25 954 0.9× 526 1.9× 143 0.8× 210 1.1× 103 0.8× 30 1.5k

Countries citing papers authored by Ellen van Beusekom

Since Specialization
Citations

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

Fields of papers citing papers by Ellen van Beusekom

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Ellen van Beusekom. 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 Ellen van Beusekom. The network helps show where Ellen van Beusekom may publish in the future.

Co-authorship network of co-authors of Ellen van Beusekom

This figure shows the co-authorship network connecting the top 25 collaborators of Ellen van Beusekom. A scholar is included among the top collaborators of Ellen van Beusekom 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 Ellen van Beusekom. Ellen van Beusekom is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

15 of 15 papers shown
1.
2.
Beusekom, Ellen van, Sílvia Albert, Johanna M. van Hagen, et al.. (2024). Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1. Stem Cell Research. 77. 103442–103442.
3.
Lewerissa, Elly, Ellen van Beusekom, Astrid Oudakker, et al.. (2024). CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability. Brain. 148(4). 1286–1301. 5 indexed citations
4.
Boer, Elke de, Carlo Marcelis, Kornelia Neveling, et al.. (2023). A complex structural variant near SOX3 causes X-linked split-hand/foot malformation. Human Genetics and Genomics Advances. 4(3). 100200–100200. 1 indexed citations
5.
Scherpenzeel, Monique van, Mohammad Alsady, Moniek Riemersma, et al.. (2019). Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy. Clinical Chemistry. 65(10). 1295–1306. 11 indexed citations
6.
7.
Ockeloen, Charlotte W., Hanka Venselaar, Cécile Boulanger, et al.. (2017). Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome‐like phenotype and hypogammaglobulinemia. American Journal of Medical Genetics Part A. 173(7). 1813–1820. 8 indexed citations
8.
Riemersma, Moniek, Hanna Mandel, Ellen van Beusekom, et al.. (2015). Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. Neurology. 84(21). 2177–2182. 28 indexed citations
9.
Buysse, Karen, Moniek Riemersma, Gareth T. Powell, et al.. (2013). Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome. Human Molecular Genetics. 22(9). 1746–1754. 113 indexed citations
10.
Jae, Lucas T., Matthijs Raaben, Moniek Riemersma, et al.. (2013). Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry. Science. 340(6131). 479–483. 225 indexed citations
11.
Bokhoven, Hans van, Jacopo Celli, Jeroen van Reeuwijk, et al.. (2005). MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nature Genetics. 37(5). 465–467. 110 indexed citations
12.
Bernabé, Daniel Beltrán Valero de, Hans van Bokhoven, Ellen van Beusekom, et al.. (2003). A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype. Journal of Medical Genetics. 40(11). 845–848. 114 indexed citations
13.
Currier, Sophie, Alice Steinbrecher, Jacopo Celli, et al.. (2002). Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome. The American Journal of Human Genetics. 71(5). 1033–1043. 519 indexed citations breakdown →
14.
Bokhoven, Hans van, Jacopo Celli, Hülya Kayserili, et al.. (2000). Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genetics. 25(4). 423–426. 195 indexed citations
15.
Celli, Jacopo, Ellen van Beusekom, Raoul C. M. Hennekam, et al.. (2000). Familial Syndromic Esophageal Atresia Maps to 2p23-p24. The American Journal of Human Genetics. 66(2). 436–444. 25 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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