Ton van Essen

2.0k citations

13 papers · 726 indexed · h-index 11

Co-authors: Birgit Sikkema‐Raddatz Raoul C. M. Hennekam Trijnie Dijkhuizen Klaas Kok S. Hadj‐Rabia Amandine Boyer Elisabeth Flori Nicole Laurent
Topics: Genomic variations and chromosomal abnormalities (6 papers)Chromosomal and Genetic Variations (4 papers)Genetics and Neurodevelopmental Disorders (3 papers)
Cited by: Genetics Molecular Biology Cell Biology
Journals: The American Journal of Human Genetics Human Molecular Genetics Human Genetics
Partner nations: Netherlands United Kingdom Belgium

In The Last Decade

Ton van Essen

13 papers receiving 697 citations

Peers

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-authorship network of co-authors of Ton van Essen

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

All Works

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13 of 13 papers shown

#	Work	Indexed citations
1	A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy 2013 ·European Journal of Human Genetics ·Arjan Pm de Brouwer,Sander B. Nabuurs,Ingrid E.C. Verhaart,Astrid Oudakker,Roel Hordijk,Helger G. Yntema,(unknown),Krysta Voesenek,(unknown),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	29
2	Clinical features and respiratory complications in Myhre syndrome 2011 ·European Journal of Medical Genetics ·Ruth McGowan,(unknown),P.M. McHenry,Alexander Cooke,(unknown),Wee Teik Keng,Victoria Murday,Margo Whiteford,Frederik G. Dikkers,(unknown),Ton van Essen,John Tolmie	24
3	Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds 2011 ·Clinical Genetics ·Marjolein Wentink,Mark Nellist,Marianne Hoogeveen‐Westerveld,Bernard A. Zonnenberg,(unknown),Ton van Essen,(unknown),Geoffrey Woods,Petra E. Cohn‐Hokke,Wim Brussel,Eric Smeets,Alice S. Brooks,Dicky Halley,Ans van den Ouweland,Anneke Maat‐Kievit	24
4	Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies 2011 ·European Journal of Human Genetics ·Beata Nowakowska,Nicole de Leeuw,(unknown),Birgit Sikkema‐Raddatz,John A. Crolla,Ronald Thoelen,Marion Koopmans,(unknown),Arie van Haeringen,Anne-Marie Van Der Kevie-Kersemaekers,Rolph Pfundt,(unknown),Ton van Essen,(unknown),Andrew Green,William Reardon,Jean‐Pierre Fryns,Joris Vermeesch	76
5	Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances 2009 ·European Journal of Medical Genetics ·(unknown),Birgit Sikkema‐Raddatz,(unknown),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,(unknown),Martijn H. Breuning,Conny M.A. van Ravenswaaij‐Arts	116
6	Missense mutations to the TSC1 gene cause tuberous sclerosis complex 2008 ·European Journal of Human Genetics ·Mark Nellist,Diana van den Heuvel,(unknown),(unknown),Miriam Goedbloed,Anneke Maat‐Kievit,Ton van Essen,Karin van Spaendonck‐Zwarts,Floor E. Jansen,(unknown),G. Bartalini,Outi Vierimaa,Maila Penttinen,Jenneke van den Ende,Ans van den Ouweland,Dicky Halley	21
7	Identification of copy number variants associated with BPES-like phenotypes 2008 ·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,Elfride De Baere,Claudia Ruivenkamp	12
8	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 2006 ·American Journal of Medical Genetics Part A ·Trijnie Dijkhuizen,Ton van Essen,Pieter van der Vlies,Joanne Verheij,Birgit Sikkema‐Raddatz,Anneke Y. van der Veen,Klasien B.J. Gerssen‐Schoorl,Charles H.C.M. Buys,Klaas Kok	52
9	Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation 2005 ·European Journal of Medical Genetics ·Klaas Kok,Trijnie Dijkhuizen,(unknown),(unknown),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	26
10	Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy 2004 ·Human Molecular Genetics ·Claire Navarro,Annachiara De Sandre‐Giovannoli,Rafaëlle Bernard,Irène Boccaccio,Amandine Boyer,David Geneviève,S. Hadj‐Rabia,Caroline Gaudy‐Marqueste,(unknown),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	266
11	Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships 2004 ·American Journal of Medical Genetics Part A ·(unknown),Hester Y. Kroes,Krystyna M. Sollie,(unknown),P. G. Barth,Ton van Essen	10
12	Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene 2000 ·The American Journal of Human Genetics ·(unknown),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	60
13	Three cases of mosaicism for balanced reciprocal translocations 1998 ·American Journal of Medical Genetics ·Beike Leegte,Birgit Sikkema‐Raddatz,Roel Hordijk,Katelijne Bouman,Ton van Essen,Sérgio Castedo,Bauke M. de Jong	10

About Ton van Essen

Ton van Essen is a scholar working on Genetics, Immunology and Allergy and Pediatrics, Perinatology and Child Health, having authored 13 papers that have together received 726 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (6 papers), Chromosomal and Genetic Variations (4 papers) and Genetics and Neurodevelopmental Disorders (3 papers). The work is most often cited by research in Genetics (324 citations), Molecular Biology (474 citations) and Cell Biology (80 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, S. Hadj‐Rabia, Amandine Boyer, Elisabeth Flori, Nicole Laurent, Rafaëlle Bernard and Annachiara De Sandre‐Giovannoli. Their work appears in journals such as The American Journal of Human Genetics, Human Molecular Genetics and Human Genetics.

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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