Ellen van Beusekom

3.2k citations
15 papers · 1.4k · 1 hit paper · h-index 10

Impact in

  • Molecular Biology top 10%
    • Muscle Physiology and Disorders
    • Glycosylation and Glycoproteins Research
    • Wnt/β-catenin signaling in development and cancer
    • Ubiquitin and proteasome pathways
    • RNA Research and Splicing
  • Geriatrics and Gerontology top 10%

Papers in

  • Molecular Biology 9
    • RNA Research and Splicing 3
    • Mitochondrial Function and Pathology 3
    • Muscle Physiology and Disorders 2
    • Ubiquitin and proteasome pathways 1
  • Genetics 4
    • Genetics and Neurodevelopmental Disorders 1
Co-authors
Hans van Bokhoven (15 shared papers)Han G. Brunner (5 shared papers)Jacopo Celli (4 shared papers)Hülya Kayserili (2 shared papers)Bru Cormand (2 shared papers)Sophie Currier (2 shared papers)William B. Dobyns (2 shared papers)David Chitayat (2 shared papers)
Journals
Nature Genetics (2 papers)The American Journal of Human Genetics (2 papers)Cerebral Cortex (1 paper)Journal of Medical Genetics (1 paper)Neurology (1 paper)
Partner nations
NetherlandsTürkiyeUnited States

In The Last Decade

Ellen van Beusekom

13 papers receiving 1.4k citations

Ellen van Beusekom's Hit Papers

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome 2002 · 517 citations
5170+8+16Years since publication100200300400500
What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

  • it has ≥500 total citations;
  • it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
  • it reaches the top citation threshold in at least one of its specific research topics.
  1. 2002 The American Journal of Human Genetics

Peers

Ellen van Beusekom
Comparison fields: 5 of 74
  • Molecular Biology 1.1k
  • Geriatrics and Gerontology 36
  • Cell Biology 181
  • Developmental Biology 22
  • Developmental Neuroscience 38
Replace Hiroki Kano with:
Hiroki Kano Japan
Kiyomi Taniguchi Japan
Francesca Cole United States
Laurent Turchi France
Suzanne W. Sernett United States
Melinda L. Angus-Hill United States
Beatrice Bodega Italy
Tatiana V. Cohen United States
J.M.N. Hoovers Netherlands
Bennett H. Penn United States
Ellen van Beusekom relative to Hiroki Kano Japan Hiroki Kano's profile →
Citations per field
00.5×1.7×
Hiroki Kano · 1×
Citations per year

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-authors

The 25 scholars most cited alongside Ellen van Beusekom, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Ellen van Beusekom Line = papers co-authored together Ellen van Beusekom links everyone, so they are left out of the graph.

All Works

15 of 15 papers shown
#Work
1
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
The American Journal of Human Genetics ·Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cormand, Ana-Elina Lehesjoki, Jesús Cruces, Thomas Voït, Christopher A. Walsh, Hans van Bokhoven, Han G. Brunner
Hit paper breakdown →		2002517
2
Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
Science ·Lucas T. Jae, Matthijs Raaben, Moniek Riemersma, Ellen van Beusekom, Vincent A. Blomen, Arno Velds, Ron Kerkhoven, Jan E. Carette, Haluk Topaloğlu, Peter Meinecke, Marja W. Wessels, Dirk J. Lefeber, Sean P. J. Whelan, Hans van Bokhoven, Thijn R. Brummelkamp
2013226
3
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
Nature Genetics ·Hans van Bokhoven, Jacopo Celli, Hülya Kayserili, Ellen van Beusekom, Sevim Balcı, Wim Brussel, F Skovby, Bronwyn Kerr, E. Ferda Perçin, Nurten Akarsu, Han G. Brunner
2000196
4
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
Journal of Medical Genetics ·Daniel Beltrán Valero de Bernabé, Hans van Bokhoven, Ellen van Beusekom, Willem M.R. van den Akker, Sarina G. Kant, William B. Dobyns, Bru Cormand, Sophie Currier, Ben C.J. Hamel, Beril Talim, Haluk Topaloğlu, Han G. Brunner
2003114
5
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome
Human Molecular Genetics ·Karen Buysse, Moniek Riemersma, Gareth T. Powell, Jeroen van Reeuwijk, David Chitayat, Tony Roscioli, Erik‐Jan Kamsteeg, Christa van den Elzen, Ellen van Beusekom, Susan Blasér, Riyana Babul‐Hirji, W Halliday, Gavin J. Wright, Derek L. Stemple, Yung‐Yao Lin, Dirk J. Lefeber, Hans van Bokhoven
2013113
6
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
Nature Genetics ·Hans van Bokhoven, Jacopo Celli, Jeroen van Reeuwijk, Tuula Rinne, Bob Glaudemans, Ellen van Beusekom, Paul N.M.A. Rieu, Ruth Newbury‐Ecob, Chin Chiang, Han G. Brunner
2005110
7
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome
Neurology ·Moniek Riemersma, Hanna Mandel, Ellen van Beusekom, Isabella Gazzoli, Tony Roscioli, Ayelet Eran, Ruth Gershoni‐Baruch, Moran Gershoni, Shmuel Pietrokovski, Lisenka E.L.M. Vissers, Dirk J. Lefeber, Michèl A.A.P. Willemsen, Ron A. Wevers, Hans van Bokhoven
201529
8
Familial Syndromic Esophageal Atresia Maps to 2p23-p24
The American Journal of Human Genetics ·Jacopo Celli, Ellen van Beusekom, Raoul C. M. Hennekam, M. Esther Gallardo, Dominique F.C.M. Smeets, Santiago Rodrı́guez de Córdoba, Jeffrey W. Innis, Moshe Frydman, Rainer König, Helen Kingston, John Tolmie, Lutgarde C. P. Govaerts, Hans van Bokhoven, Han G. Brunner
200025
9
Transcriptome Analysis Identifies Multifaceted Regulatory Mechanisms Dictating a Genetic Switch from Neuronal Network Establishment to Maintenance During Postnatal Prefrontal Cortex Development
Cerebral Cortex ·Yvet Kroeze, Martin Oti, Ellen van Beusekom, Roel H. M. Cooijmans, Hans van Bokhoven, Sharon M. Kolk, Judith R. Homberg, Huiqing Zhou
201715
10
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy
Clinical Chemistry ·Walinka van Tol, Monique van Scherpenzeel, Mohammad Alsady, Moniek Riemersma, Esther Hermans, Else Kragt, Giorgio Tasca, Erik‐Jan Kamsteeg, Maartje Pennings, Ellen van Beusekom, R. Jeroen Vermeulen, Hans van Bokhoven, Nicol C. Voermans, Michèl A.A.P. Willemsen, Angel Ashikov, Dirk J. Lefeber
201911
11
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 ·Kriti D. Khandelwal, Charlotte W. Ockeloen, Hanka Venselaar, Cécile Boulanger, Bénédicte Brichard, Étienne Sokal, Rolph Pfundt, Tuula Rinne, Ellen van Beusekom, Marjon Bloemen, Gerrit Vriend, Nicole Revençu, Carine Carels, Hans van Bokhoven, Huiqing Zhou
20178
12
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability
Brain ·Marina P. Hommersom, Nina Doorn, Sofía Puvogel, Elly Lewerissa, Annika Mordelt, Ummi Ciptasari, Franziska Kampshoff, Lieke Dillen, Ellen van Beusekom, Astrid Oudakker, Naoki Kogo, Amalia M. Dolga, Monica Frega, Dirk Schubert, (unknown), (unknown), Hans van Bokhoven
20246
13
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
Human Genetics and Genomics Advances ·Elke de Boer, Carlo Marcelis, Kornelia Neveling, Ellen van Beusekom, Alexander Hoischen, Willemijn M. Klein, Nicole de Leeuw, Tuomo Mantere, Uirá Souto Melo, Jeroen van Reeuwijk, Dominique Smeets, Malte Spielmann, Tjitske Kleefstra, Hans van Bokhoven, Lisenka E.L.M. Vissers
20231
14
Genetic Inactivation of the Serotonin Transporter Dysregulates Expression of Neurotransmission Genes and Genome‐Wide DNA Methylation Levels in the Medial Prefrontal Cortex of Male Rats During Postnatal Development
Developmental Neurobiology ·Yvet Kroeze, Martin Oti, Roel H. M. Cooijmans, Ellen van Beusekom, Leonie I. Kroeze, Anthonieke Middelman, Hans van Bokhoven, Sharon M. Kolk, Judith R. Homberg, Huiqing Zhou
20250
15
Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
Stem Cell Research ·Lieke Dillen, Neelam Fatima, Marina P. Hommersom, Ece Çepni, Fareeha Fatima, Ellen van Beusekom, Sílvia Albert, Johanna M. van Hagen, Bert de Vries, (unknown), Arjan P.M. de Brouwer, Hans van Bokhoven
20240

About Ellen van Beusekom

Ellen van Beusekom is a scholar working on Molecular Biology, Genetics, Surgery, Cancer Research and Cellular and Molecular Neuroscience, having authored 15 papers that have together received 1.4k indexed citations. Recurring topics across this work include RNA Research and Splicing (3 papers), Mitochondrial Function and Pathology (3 papers), Genetic Neurodegenerative Diseases (2 papers), Cellular transport and secretion (2 papers), Muscle Physiology and Disorders (2 papers), Esophageal and GI Pathology (2 papers), Genetics and Neurodevelopmental Disorders (1 paper) and Ubiquitin and proteasome pathways (1 paper). The work is most often cited by research in Molecular Biology (1.1k citations), Geriatrics and Gerontology (36 citations), Cell Biology (181 citations), Developmental Biology (22 citations) and Developmental Neuroscience (38 citations). Ellen van Beusekom has collaborated with scholars based in Netherlands, Türkiye and United States. Frequent 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 Bert van der Zwaag. Their work appears in journals such as Nature Genetics, The American Journal of Human Genetics, Cerebral Cortex, Journal of Medical Genetics and Neurology.

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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