David A. Koolen

10.3k total citations · 1 hit paper
53 papers, 3.1k citations indexed

About

David A. Koolen is a scholar working on Genetics, Molecular Biology and Plant Science. According to data from OpenAlex, David A. Koolen has authored 53 papers receiving a total of 3.1k indexed citations (citations by other indexed papers that have themselves been cited), including 45 papers in Genetics, 27 papers in Molecular Biology and 6 papers in Plant Science. Recurrent topics in David A. Koolen's work include Genomic variations and chromosomal abnormalities (36 papers), Genomics and Rare Diseases (26 papers) and Genetics and Neurodevelopmental Disorders (21 papers). David A. Koolen is often cited by papers focused on Genomic variations and chromosomal abnormalities (36 papers), Genomics and Rare Diseases (26 papers) and Genetics and Neurodevelopmental Disorders (21 papers). David A. Koolen collaborates with scholars based in Netherlands, United States and France. David A. Koolen's co-authors include Bert B.A. de Vries, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Tjitske Kleefstra, Helger G. Yntema, Marjolein H. Willemsen, Bregje W.M. van Bon, Alexander Hoischen and Joep de Ligt and has published in prestigious journals such as New England Journal of Medicine, Nature Medicine and Nature Genetics.

In The Last Decade

David A. Koolen

51 papers receiving 3.0k citations

Hit 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.

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

2012 987 citations Joep de Ligt, Marjolein H. Willemsen et al. New England Journal of Medicine profile →

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
David A. Koolen Netherlands	22	2.2k	1.6k	337	330	203	53	3.1k
Marwan Shinawi United States	32	1.5k 0.7×	2.4k 1.5×	146 0.4×	375 1.1×	218 1.1×	137	4.3k
Alessandra Baumer Switzerland	27	1.3k 0.6×	1.7k 1.1×	275 0.8×	507 1.5×	73 0.4×	88	2.9k
Seema R. Lalani United States	30	1.6k 0.7×	1.5k 1.0×	287 0.9×	481 1.5×	85 0.4×	98	2.9k
Patrick Edery France	33	1.6k 0.7×	2.4k 1.5×	116 0.3×	250 0.8×	171 0.8×	117	4.5k
Christophe Philippe France	30	1.6k 0.7×	1.5k 0.9×	102 0.3×	207 0.6×	309 1.5×	77	2.7k
Bregje W.M. van Bon Netherlands	19	1.7k 0.8×	1.3k 0.8×	63 0.2×	404 1.2×	205 1.0×	43	2.9k
Katrin Õunap Estonia	25	857 0.4×	1.0k 0.6×	103 0.3×	264 0.8×	72 0.4×	106	1.8k
Victoria Mok Siu Canada	25	868 0.4×	1.3k 0.8×	152 0.5×	138 0.4×	97 0.5×	73	1.9k
Angelo Selicorni Italy	29	1.8k 0.8×	2.5k 1.6×	165 0.5×	553 1.7×	237 1.2×	176	3.8k
Paul Renbaum Israel	28	976 0.4×	1.6k 1.0×	78 0.2×	816 2.5×	82 0.4×	87	3.2k

Countries citing papers authored by David A. Koolen

Since Specialization

Citations

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

Fields of papers citing papers by David A. Koolen

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by David A. Koolen. 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 David A. Koolen. The network helps show where David A. Koolen may publish in the future.

Co-authorship network of co-authors of David A. Koolen

This figure shows the co-authorship network connecting the top 25 collaborators of David A. Koolen. A scholar is included among the top collaborators of David A. Koolen 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 David A. Koolen. David A. Koolen 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

Dingemans, Alexander J.M., Sandra Jansen, Jeroen van Reeuwijk, et al.. (2024). Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals. Nature Medicine. 30(7). 1994–2003. 4 indexed citations

Colin, Florent, Pauline Burger, Axelle Strehle, et al.. (2023). GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome. SHILAP Revista de lepidopterología. 1(1). 100817–100817. 2 indexed citations

Coutelle, Romain, David A. Koolen, Tjitske Kleefstra, et al.. (2022). The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA. BMC Psychiatry. 22(1). 572–572. 3 indexed citations

Dingemans, Alexander J.M., Lisenka E.L.M. Vissers, David A. Koolen, et al.. (2021). Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome. European Journal of Human Genetics. 29(9). 1418–1423. 6 indexed citations

Dingemans, Alexander J.M., Max Hinne, Sandra Jansen, et al.. (2021). Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders. Genetics in Medicine. 24(3). 645–653. 7 indexed citations

Jansen, Sandra, Janneke Schuurs-Hoeijmakers, David A. Koolen, et al.. (2018). Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders. Genetics in Medicine. 21(8). 1719–1725. 13 indexed citations

Fuchs, Sabine A., Imre F. Schene, Peter G. J. Nikkels, et al.. (2018). Aminoacyl-tRNA synthetase deficiencies in search of common themes. Genetics in Medicine. 21(2). 319–330. 68 indexed citations

Mulkey, Sarah B., Bruria Ben‐Zeev, Joost Nicolai, et al.. (2017). Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H. Epilepsia. 58(3). 436–445. 71 indexed citations

Dudding‐Byth, Tracy, Elizabeth Holliday, Anna Hackett, et al.. (2017). Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability. BMC Biotechnology. 17(1). 90–90. 24 indexed citations

10.

Arbogast, Thomas, Giovanni Iacono, Claire Chevalier, et al.. (2017). Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition. PLoS Genetics. 13(7). e1006886–e1006886. 20 indexed citations

11.

Sánchez‐Caballero, Laura, Benedetta Ruzzenente, L Bianchi, et al.. (2016). Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. The American Journal of Human Genetics. 99(1). 208–216. 42 indexed citations

12.

Ockeloen, Charlotte W., Jan M. Cobben, Carlo Marcelis, & David A. Koolen. (2013). A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). Clinical Dysmorphology. 22(3). 106–108. 1 indexed citations

13.

Ligt, Joep de, Marjolein H. Willemsen, Bregje W.M. van Bon, et al.. (2012). Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability. New England Journal of Medicine. 367(20). 1921–1929. 987 indexed citations breakdown →

14.

Koolen, David A., Juliette Dupont, Nicole de Leeuw, et al.. (2012). Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. European Journal of Human Genetics. 20(7). 729–733. 23 indexed citations

15.

Borel, Christelle, Fanny Cheung, Helen Stewart, et al.. (2012). Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction. Human Genetics. 131(9). 1519–1524. 21 indexed citations

16.

Bon, Bregje W.M. van, David A. Koolen, Ilse Feenstra, et al.. (2007). Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review. Clinical Dysmorphology. 16(4). 279–282. 1 indexed citations

17.

Koolen, David A., Rolph Pfundt, Nicole de Leeuw, et al.. (2006). A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation. Clinical Dysmorphology. 15(3). 133–137. 7 indexed citations

18.

Kleefstra, Tjitske, David A. Koolen, Willy M. Nillesen, et al.. (2006). Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. American Journal of Medical Genetics Part A. 140A(6). 618–623. 16 indexed citations

19.

Koolen, David A., Lisenka E.L.M. Vissers, Rolph Pfundt, et al.. (2006). A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics. 38(9). 999–1001. 305 indexed citations

20.

Koolen, David A., J. Herbergs, Joris A. Veltman, et al.. (2006). Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. Journal of Human Genetics. 51(8). 721–726. 9 indexed citations

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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