Ton van Essen

2.0k citations
14 papers · 798 · h-index 12

Impact in

  • Genetics top 10%
    • Genomic variations and chromosomal abnormalities
    • Genetics and Neurodevelopmental Disorders
    • Connective tissue disorders research
  • Molecular Biology
    • Nuclear Structure and Function
    • RNA Research and Splicing
    • Genomics and Chromatin Dynamics
    • Congenital heart defects research

Papers in

  • Genetics 10
    • Genomic variations and chromosomal abnormalities 6
    • Genetics and Neurodevelopmental Disorders 3
    • Genetic Syndromes and Imprinting 2
  • Molecular Biology 6
    • Ubiquitin and proteasome pathways 2
    • RNA regulation and disease 2
Co-authors
Birgit Sikkema‐Raddatz (5 shared papers)Raoul C. M. Hennekam (3 shared papers)Trijnie Dijkhuizen (3 shared papers)Klaas Kok (3 shared papers)Nicolas Lévy (1 shared paper)Rafaëlle Bernard (1 shared paper)Alain Verloès (1 shared paper)Annachiara De Sandre‐Giovannoli (1 shared paper)
Journals
European Journal of Medical Genetics (3 papers)European Journal of Human Genetics (3 papers)Clinical Genetics (1 paper)Human Genetics (1 paper)Gastroenterology (1 paper)
Partner nations
NetherlandsUnited KingdomBelgium

In The Last Decade

Ton van Essen

14 papers receiving 769 citations

Peers

Ton van Essen
Comparison fields: 5 of 58
  • Genetics 306
  • Molecular Biology 473
  • Cell Biology 90
  • Immunology and Allergy 21
  • Developmental Biology 7
Replace Luitgard Graul‐Neumann with:
Luitgard Graul‐Neumann Germany
Andrew S. McCallion United States
Eva Pipiras France
Christoffer Jonsrud Norway
Pelin Özlem Şimşek‐Kiper Türkiye
Sérgio B. Sousa Portugal
Jiong Yan United States
Annabel Christ Germany
Véronica Cusin France
Katsunaga Sakai Japan
Ton van Essen relative to Luitgard Graul‐Neumann Germany Luitgard Graul‐Neumann's profile →
Citations per field
00.5×1.5×
Luitgard Graul‐Neumann · 1×
Citations per year

Countries citing papers authored by Ton van Essen

Since Specialization
Citations

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

Fields of papers citing papers by Ton van Essen

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Ton van Essen, 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 Ton van Essen Line = papers co-authored together Ton van Essen links everyone, so they are left out of the graph.

All Works

14 of 14 papers shown
#Work
1
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
Human Molecular Genetics ·Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, S. Hadj‐Rabia, Caroline Gaudy‐Marqueste, Henk Sillevis Smitt, P. Vabres, Laurence Bonhomme‐Faivre, Alain Verloès, Ton van Essen, Elisabeth Flori, Raoul C. M. Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy
2004268
2
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances
European Journal of Medical Genetics ·M. Doornbos, Birgit Sikkema‐Raddatz, Claudia A.L. Ruijvenkamp, Trijnie Dijkhuizen, Emilia K. Bijlsma, Antoinet C.J. Gijsbers, Yvonne Hilhorst‐Hofstee, Roel Hordijk, K. T. Verbruggen, Wilhelmina S. Kerstjens‐Frederikse, Ton van Essen, Klaas Kok, Anneke T. van Silfhout, Martijn H. Breuning, Conny M.A. van Ravenswaaij‐Arts
2009116
3
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
European Journal of Human Genetics ·Beata Nowakowska, Nicole de Leeuw, Claudia AL Ruivenkamp, Birgit Sikkema‐Raddatz, John A. Crolla, (unknown), Marion Koopmans, Nicolette den Hollander, Arie van Haeringen, Anne-Marie Van Der Kevie-Kersemaekers, Rolph Pfundt, Hanneke Mieloo, Ton van Essen, Bert B A de Vries, Andrew Green, William Reardon, Jean‐Pierre Fryns, Joris Vermeesch
201177
4
Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene
The American Journal of Human Genetics ·Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul C. M. Hennekam, Andrea Superti‐Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, Leena Ala‐Kokko
200063
5
Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer
Gastroenterology ·Richarda M. de Voer, Ad Geurts van Kessel, Robbert D.A. Weren, Marjolijn J. L. Ligtenberg, Dominique Smeets, Lei Fu, Lilian Vreede, Eveline J. Kamping, Eugène T.P. Verwiel, Marc–Manuel Hahn, Maayke Ariaans, Liesbeth Spruijt, Ton van Essen, Gunnar Houge, Hans K. Schackert, Jian Sheng, Hanka Venselaar, Conny M.A. van Ravenswaaij‐Arts, J. Han van Krieken, (unknown), Roland P. Kuiper
201360
6
FISH and array‐CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions
American Journal of Medical Genetics Part A ·Trijnie Dijkhuizen, Ton van Essen, Pieter van der Vlies, (unknown), Birgit Sikkema‐Raddatz, Anneke Y. van der Veen, Klasien B.J. Gerssen‐Schoorl, Charles H.C.M. Buys, Klaas Kok
200653
7
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
European Journal of Human Genetics ·Arjan Pm de Brouwer, Sander B. Nabuurs, Ingrid E.C. Verhaart, Astrid Oudakker, Roel Hordijk, Helger G. Yntema, Jannet M Hordijk-Hos, Krysta Voesenek, Bert Ba de Vries, Ton van Essen, Wei Chen, Hao Hu, Jamel Chelly, Johan T. den Dunnen, Vera M. Kalscheuer, Annemieke Aartsma‐Rus, Ben C.J. Hamel, Hans van Bokhoven, Tjitske Kleefstra
201330
8
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds
Clinical Genetics ·Marjolein Wentink, Mark Nellist, Marianne Hoogeveen‐Westerveld, Bernard A. Zonnenberg, DM van der Kolk, Ton van Essen, S. M. Park, Geoffrey Woods, Petra E. Cohn‐Hokke, Wim Brussel, Eric Smeets, Alice S. Brooks, Dicky Halley, Ans van den Ouweland, Anneke Maat‐Kievit
201127
9
Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation
European Journal of Medical Genetics ·Klaas Kok, Trijnie Dijkhuizen, Yolanthe Swart, Hanny Zorgdrager, Pieter van der Vlies, Rudolf S.N. Fehrmann, Gerard J. te Meerman, Klasien B.J. Gerssen‐Schoorl, Ton van Essen, Birgit Sikkema‐Raddatz, Charles H.C.M. Buys
200526
10
Clinical features and respiratory complications in Myhre syndrome
European Journal of Medical Genetics ·Ruth McGowan, Ramkumar Gulati, P.M. McHenry, Alexander Cooke, Sandra Butler, Wee Teik Keng, Victoria Murday, Margo Whiteford, Frederik G. Dikkers, Brigit Sikkema-Raddatz, Ton van Essen, John Tolmie
201124
11
Missense mutations to the TSC1 gene cause tuberous sclerosis complex
European Journal of Human Genetics ·Mark Nellist, Diana van den Heuvel, Diane Schluep, Carla Exalto, Miriam Goedbloed, Anneke Maat‐Kievit, Ton van Essen, Karin van Spaendonck‐Zwarts, Floor E. Jansen, Paula Helderman, G. Bartalini, Outi Vierimaa, Maila Penttinen, Jenneke van den Ende, Ans van den Ouweland, Dicky Halley
200822
12
Identification of copy number variants associated with BPES-like phenotypes
Human Genetics ·Antoinet C.J. Gijsbers, Barbara D′haene, Yvonne Hilhorst‐Hofstee, Marcel M. A. M. Mannens, Beate Albrecht, J. Seidel, David R. Witt, Melissa Maisenbacher, Bart Loeys, Ton van Essen, Egbert Bakker, Raoul C. M. Hennekam, Martijn H. Breuning, (unknown), Claudia Ruivenkamp
200812
13
Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships
American Journal of Medical Genetics Part A ·Aaltje J Schram, Hester Y. Kroes, Krystyna M. Sollie, Bert Timmer, P. G. Barth, Ton van Essen
200410
14
Three cases of mosaicism for balanced reciprocal translocations
American Journal of Medical Genetics ·Beike Leegte, Birgit Sikkema‐Raddatz, Roel Hordijk, Katelijne Bouman, Ton van Essen, Sérgio Castedo, Bauke M. de Jong
199810

About Ton van Essen

Ton van Essen is a scholar working on Genetics, Molecular Biology, Plant Science, Pediatrics, Perinatology and Child Health and Pathology and Forensic Medicine, having authored 14 papers that have together received 798 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (6 papers), Chromosomal and Genetic Variations (4 papers), Genetics and Neurodevelopmental Disorders (3 papers), Prenatal Screening and Diagnostics (3 papers), Ubiquitin and proteasome pathways (2 papers), Genetic Syndromes and Imprinting (2 papers), Tuberous Sclerosis Complex Research (2 papers) and RNA regulation and disease (2 papers). The work is most often cited by research in Genetics (306 citations), Molecular Biology (473 citations), Cell Biology (90 citations), Immunology and Allergy (21 citations) and Developmental Biology (7 citations). Ton van Essen has collaborated with scholars based in Netherlands, United Kingdom and Belgium. Frequent co-authors include Birgit Sikkema‐Raddatz, Raoul C. M. Hennekam, Trijnie Dijkhuizen, Klaas Kok, Nicolas Lévy, Rafaëlle Bernard, Alain Verloès, Annachiara De Sandre‐Giovannoli, Elisabeth Flori and Caroline Gaudy‐Marqueste. Their work appears in journals such as European Journal of Medical Genetics, European Journal of Human Genetics, Clinical Genetics, Human Genetics and Gastroenterology.

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.

Explore authors with similar magnitude of impact

Breakdown of academic impact, for papers by Luitgard Graul‐NeumannBreakdown of academic impact, for papers by Andrew S. McCallionBreakdown of academic impact, for papers by Eva PipirasBreakdown of academic impact, for papers by Christoffer JonsrudBreakdown of academic impact, for papers by Pelin Özlem Şimşek‐KiperBreakdown of academic impact, for papers by Sérgio B. SousaBreakdown of academic impact, for papers by Jiong YanBreakdown of academic impact, for papers by Annabel ChristBreakdown of academic impact, for papers by Véronica CusinBreakdown of academic impact, for papers by Katsunaga Sakai