A. J. van Essen

431 citations

11 papers · 287 indexed · h-index 11

Co-authors: Egbert Bakker Vibhore Kumar Maria Lombardi Raoul C. M. Hennekam B. Castle Karin Writzl Emma Wakeling Saskia M. Maas
Topics: Muscle Physiology and Disorders (3 papers)DNA Repair Mechanisms (2 papers)Parathyroid Disorders and Treatments (2 papers)
Cited by: Urology Cellular and Molecular Neuroscience Genetics
Journals: Brain British Journal of Dermatology Journal of Thrombosis and Haemostasis
Partner nations: Netherlands Switzerland Germany

In The Last Decade

A. J. van Essen

11 papers receiving 283 citations

Peers

Countries citing papers authored by A. J. van Essen

Since Specialization

Citations

This map shows the geographic impact of A. J. 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 A. J. 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 A. J. van Essen more than expected).

Fields of papers citing papers by A. J. van Essen

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of A. J. van Essen

This figure shows the co-authorship network connecting the top 25 collaborators of A. J. van Essen. A scholar is included among the top collaborators of A. J. 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 A. J. van Essen. A. J. 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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11 of 11 papers shown

#	Work	Indexed citations
1	Loss-of-FunctionFANCLMutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 2015 ·Human Mutation ·Annalisa Vetro,Maria Iascone,Ivan Limongelli,Najim Ameziane,Simone Gana,Erika Della Mina,Ursula Giussani,Roberto Ciccone,Antonella Forlino,Laura Pezzoli,Martin A. Rooimans,A. J. van Essen,Jole Messa,Tommaso Rizzuti,Paolo Bianchi,Josephine C. Dorsman,Johan P. de Winter,Faustina Lalatta,Orsetta Zuffardi	22
2	Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome 2011 ·Journal of Thrombosis and Haemostasis ·(unknown),Karin Y. van Spaendonck‐Zwarts,Luisa Bonafé,(unknown),Lars A. Rödiger,Frederik G. Dikkers,A. J. van Essen,Andrea Superti‐Furga,(unknown),Cees Vermeer,Leon J. Schurgers,Gozewijn D. Laverman	25
3	Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? 2009 ·British Journal of Dermatology ·Sadhanna Badeloe,Karin Y. van Spaendonck‐Zwarts,Maurice A. M. Van Steensel,(unknown),A. J. van Essen,Marcel F. Jonkman,Peter M. Steijlen,Pamela Poblete‐Gutiérrez,Michel van Geel,Jorge Frank	10
4	Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome 2009 ·Journal of Medical Genetics ·Saskia M. Maas,Maria Lombardi,A. J. van Essen,Emma Wakeling,B. Castle,I. Karen Temple,Vibhore Kumar,Karin Writzl,Raoul C. M. Hennekam	53
5	A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect 2005 ·Neurogenetics ·Patrick Rump,(unknown),(unknown),P.M. Grootscholten,Johanna M. Fock,S. J. Hayflick,(unknown),Yvonne J. Vos,A. J. van Essen	14
6	Two cases of the caudal duplication anomaly including a discordant monozygotic twin 2002 ·American Journal of Medical Genetics ·(unknown),Meiko Takahashi,(unknown),(unknown),Kevin Kooi,Robert M.W. Hofstra,A. J. van Essen	23
7	β-Glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling 1998 ·Prenatal Diagnosis ·(unknown),Henk G. ter Brugge,A. J. van Essen,Wim J. Kleijer	11
8	A novel γ-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy 1998 ·Neuromuscular Disorders ·Anneke J. van der Kooi,Marianne de Visser,(unknown),H.B. Ginjaar,A. J. van Essen,F.G.I. Jennekens,Peter Joseph Jongen,N. J. Leschot,P. A. Bolhuis	16
9	An atypical case of Fanconi anemia in elderly sibs 1997 ·American Journal of Medical Genetics ·M. L. Kwee,(unknown),A. J. van Essen,J.H. Begeer,Hans Joenje,F. Arwert,Leo P. ten Kate	10
10	The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol. 1997 ·Journal of Medical Genetics ·A. J. van Essen,Alexander L.J. Kneppers,Annemarie H. van der Hout,Hans Scheffer,Ieke B. Ginjaar,Leo P. ten Kate,G J van Ommen,Charles H.C.M. Buys,Egbert Bakker	36
11	The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands 1996 ·Brain ·Anneke J. van der Kooi,P. G. Barth,H. F. M. Busch,Rob de Haan,H.B. Ginjaar,A. J. van Essen,(unknown),C Höweler,F.G.I. Jennekens,Peter Joseph Jongen,Harry Oosterhuis,G.W. Padberg,Frank Spaans,Axel R. Wintzen,John H. J. Wokke,Egbert Bakker,G.J.B. van Ommen,P. A. Bolhuis,Marianne de Visser	67

About A. J. van Essen

A. J. van Essen is a scholar working on Developmental Biology, Nephrology and Genetics, having authored 11 papers that have together received 287 indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (3 papers), DNA Repair Mechanisms (2 papers) and Parathyroid Disorders and Treatments (2 papers). The work is most often cited by research in Urology (25 citations), Cellular and Molecular Neuroscience (60 citations) and Genetics (33 citations). A. J. van Essen has collaborated with scholars based in Netherlands, Switzerland and Germany. Frequent co-authors include Egbert Bakker, Vibhore Kumar, Maria Lombardi, Raoul C. M. Hennekam, B. Castle, Karin Writzl, Emma Wakeling, Saskia M. Maas, I. Karen Temple and P. A. Bolhuis. Their work appears in journals such as Brain, British Journal of Dermatology and Journal of Thrombosis and Haemostasis.

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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