Johan T. den Dunnen

34.9k total citations · 7 hit papers
300 papers, 20.6k citations indexed

About

Johan T. den Dunnen is a scholar working on Molecular Biology, Genetics and Genetics. According to data from OpenAlex, Johan T. den Dunnen has authored 300 papers receiving a total of 20.6k indexed citations (citations by other indexed papers that have themselves been cited), including 239 papers in Molecular Biology, 115 papers in Genetics and 28 papers in Genetics. Recurrent topics in Johan T. den Dunnen's work include Muscle Physiology and Disorders (83 papers), RNA Research and Splicing (45 papers) and Genomics and Rare Diseases (44 papers). Johan T. den Dunnen is often cited by papers focused on Muscle Physiology and Disorders (83 papers), RNA Research and Splicing (45 papers) and Genomics and Rare Diseases (44 papers). Johan T. den Dunnen collaborates with scholars based in Netherlands, United Kingdom and United States. Johan T. den Dunnen's co-authors include Stylianos E. Antonarakis, Gert‐Jan B. van Ommen, Annemieke Aartsma‐Rus, Peter E.M. Taschner, Ivo F.A.C. Fokkema, Peter A.C. ’t Hoen, Henk P.J. Buermans, Stefan J. White, Egbert Bakker and Rolf H. A. M. Vossen and has published in prestigious journals such as Nature, New England Journal of Medicine and Proceedings of the National Academy of Sciences.

In The Last Decade

Johan T. den Dunnen

296 papers receiving 20.2k citations

Hit Papers

5 papers align trajectories

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.

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

2000 1.4k citations Johan T. den Dunnen, Stylianos E. Antonarakis Human Mutation profile →
HGVS Recommendations for the Description of Sequence Variants: 2016 Update

2016 1.0k citations Johan T. den Dunnen, Raymond Dalgleish et al. Human Mutation profile →
LOVD v.2.0: the next generation in gene variant databases

2011 694 citations Ivo F.A.C. Fokkema, Peter E.M. Taschner et al. Human Mutation profile →
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms

2008 617 citations Peter A.C. ’t Hoen, Yavuz Ariyürek et al. Nucleic Acids Research profile →
Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

2007 577 citations Annemieke Aartsma‐Rus, Johan T. den Dunnen et al. profile →
Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule

2006 531 citations Annemieke Aartsma‐Rus, J.C.T. van Deutekom et al. Muscle & Nerve profile →
Next generation sequencing technology: Advances and applications

2014 452 citations Henk P.J. Buermans, Johan T. den Dunnen profile →

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Johan T. den Dunnen Netherlands	72	14.8k	5.9k	2.2k	1.9k	1.8k	300	20.6k
Stephen J. Tapscott United States	84	20.4k 1.4×	3.8k 0.6×	2.0k 0.9×	2.0k 1.1×	1.9k 1.0×	234	23.1k
D.N. Cooper United Kingdom	90	19.9k 1.3×	10.5k 1.8×	1.9k 0.8×	1.4k 0.7×	3.0k 1.7×	568	34.9k
Karl V. Voelkerding United States	32	11.2k 0.8×	9.8k 1.6×	1.6k 0.7×	2.2k 1.2×	2.6k 1.5×	86	23.1k
Jean Weissenbach France	66	13.8k 0.9×	7.1k 1.2×	3.3k 1.5×	969 0.5×	1.1k 0.6×	183	24.5k
Elaine Lyon United States	30	10.9k 0.7×	10.3k 1.7×	1.7k 0.7×	2.2k 1.2×	2.3k 1.3×	102	23.2k
Marie‐Geneviève Mattéi France	95	15.9k 1.1×	7.0k 1.2×	1.1k 0.5×	1.1k 0.6×	2.4k 1.3×	507	29.2k
Raju Kucherlapati United States	69	13.2k 0.9×	4.2k 0.7×	1.0k 0.5×	960 0.5×	2.0k 1.1×	230	19.4k
Gert‐Jan B. van Ommen Netherlands	58	10.2k 0.7×	3.2k 0.5×	1.5k 0.7×	1.4k 0.7×	1.0k 0.6×	185	12.8k
Argiris Efstratiadis United States	73	20.1k 1.4×	8.5k 1.4×	1.2k 0.5×	762 0.4×	2.2k 1.2×	120	29.0k
Harold Weintraub United States	71	25.8k 1.7×	5.5k 0.9×	1.2k 0.5×	1.4k 0.8×	1.6k 0.9×	96	30.1k

Countries citing papers authored by Johan T. den Dunnen

Since Specialization

Citations

This map shows the geographic impact of Johan T. den Dunnen'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 Johan T. den Dunnen with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Johan T. den Dunnen more than expected).

Fields of papers citing papers by Johan T. den Dunnen

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Johan T. den Dunnen. 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 Johan T. den Dunnen. The network helps show where Johan T. den Dunnen may publish in the future.

Co-authorship network of co-authors of Johan T. den Dunnen

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

All Works

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20 of 20 papers shown

Hart, Reece K., Ivo F.A.C. Fokkema, Marina T. DiStefano, et al.. (2024). HGVS Nomenclature 2024: improvements to community engagement, usability, and computability. Genome Medicine. 16(1). 149–149. 7 indexed citations

Freeman, Peter, Ivo F.A.C. Fokkema, Garry R. Cutting, et al.. (2024). Standardizing variant naming in literature with VariantValidator to increase diagnostic rates. Nature Genetics. 56(11). 2284–2286. 2 indexed citations

Vermaat, Martijn, et al.. (2021). Mutalyzer 2: next generation HGVS nomenclature checker. Bioinformatics. 37(18). 2811–2817. 50 indexed citations

Zhou, Yan, Cibele Masotti, Suzana Ezquina, et al.. (2021). New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involvingTWIST1regulatory elements. Journal of Medical Genetics. 59(9). 895–905. 3 indexed citations

Evers, Andrea W.M., Johan T. den Dunnen, Marco Roos, et al.. (2020). Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics. Genes. 11(12). 1443–1443. 8 indexed citations

Aartsma‐Rus, Annemieke & Johan T. den Dunnen. (2019). Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples. Human Mutation. 40(10). 1630–1633. 15 indexed citations

Gaag, Kristiaan J. van der, Rick H. de Leeuw, Jeroen F. J. Laros, Johan T. den Dunnen, & Peter de Knijff. (2018). Short hypervariable microhaplotypes: A novel set of very short high discriminating power loci without stutter artefacts. Forensic Science International Genetics. 35. 169–175. 35 indexed citations

Cremers, Frans P.M., Stéphanie S. Cornelis, Nathalie M. Bax, et al.. (2017). In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 Stargardt disease and cone-rod dystrophy cases. Investigative Ophthalmology & Visual Science. 58(8). 1241–1241. 1 indexed citations

Dunnen, Johan T. den, Raymond Dalgleish, Donna Maglott, et al.. (2016). HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Human Mutation. 37(6). 564–569. 1035 indexed citations breakdown →

10.

Horst, Eelke van der, Rajaram Kaliyaperumal, Zuotian Tatum, et al.. (2015). Finding Novel Associations Across Domains Using Linked Data: a Case Study on Genetic Variants Disrupting Transcription Start Sites.. 2–12. 1 indexed citations

11.

Hoogeveen‐Westerveld, Marianne, Rosemary Ekong, Sue Povey, et al.. (2011). Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Human Mutation. 33(3). 476–479. 34 indexed citations

12.

Fokkema, Ivo F.A.C., Peter E.M. Taschner, Gerard C. P. Schaafsma, et al.. (2011). LOVD v.2.0: the next generation in gene variant databases. Human Mutation. 32(5). 557–563. 694 indexed citations breakdown →

13.

Hoen, Peter A.C. ’t, Michael Hirsch, Emile J. de Meijer, et al.. (2010). mRNA degradation controls differentiation state-dependent differences in transcript and splice variant abundance. Nucleic Acids Research. 39(2). 556–566. 26 indexed citations

14.

Koningsbruggen, Silvana van, Marek Gierliński, Pietá Schofield, et al.. (2010). High-Resolution Whole-Genome Sequencing Reveals That Specific Chromatin Domains from Most Human Chromosomes Associate with Nucleoli. Molecular Biology of the Cell. 21(21). 3735–3748. 242 indexed citations

15.

Cotton, Richard G.H., Arleen D. Auerbach, A. F. Brown, et al.. (2007). A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Human Mutation. 28(10). 931–932. 9 indexed citations

16.

Saris, Jasper J., Peter A.C. ’t Hoen, Ingrid M. Garrelds, et al.. (2006). Prorenin Induces Intracellular Signaling in Cardiomyocytes Independently of Angiotensin II. Hypertension. 48(4). 564–571. 196 indexed citations

17.

Aartsma‐Rus, Annemieke, J.C.T. van Deutekom, Ivo F.A.C. Fokkema, Gert‐Jan B. van Ommen, & Johan T. den Dunnen. (2006). Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule. Muscle & Nerve. 34(2). 135–144. 531 indexed citations breakdown →

18.

Gussoni, Emanuela, Richard Rodney Bennett, Kristina R. Muskiewicz, et al.. (2002). Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. Journal of Clinical Investigation. 110(6). 807–814. 116 indexed citations

19.

Apweiler, Rolf, et al.. (1999). Report of the second international nomenclature workshop. UCL Discovery (University College London). 1 indexed citations

20.

Dunnen, Johan T. den, et al.. (1987). SPECIES-SPECIFIC AND TISSUE-SPECIFIC EXPRESSION OF HUMAN ALPHA1-ANTITRYPSIN IN TRANSGENIC MICE. UCL Discovery (University College London).

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