David A. Koolen

10.3k citations

53 papers · 3.1k · 1 hit paper · h-index 22

Impact in

Genetics top 0.5%
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders

Papers in

Genetics 45
- Genomic variations and chromosomal abnormalities 36
- Genomics and Rare Diseases 26
- Genetics and Neurodevelopmental Disorders 21
- Congenital Ear and Nasal Anomalies 2
Molecular Biology 27
- Congenital heart defects research 13

Co-authors: Bert B.A. de Vries (29 shared papers)Joris A. Veltman (10 shared papers)Lisenka E.L.M. Vissers (11 shared papers)Han G. Brunner (8 shared papers)Tjitske Kleefstra (12 shared papers)Helger G. Yntema (3 shared papers)Bregje W.M. van Bon (7 shared papers)Marjolein H. Willemsen (4 shared papers)
Journals: European Journal of Human Genetics (8 papers)Genetics in Medicine (3 papers)European Journal of Medical Genetics (3 papers)The American Journal of Human Genetics (3 papers)Journal of Medical Genetics (2 papers)
Partner nations: Netherlands United States France

In The Last Decade

David A. Koolen

51 papers receiving 3.0k citations

David A. Koolen's Hit Papers

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability 2012 · 987 citations

Peers

Countries citing papers authored by David A. Koolen

Since Specialization

Citations

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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-authors

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

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 53 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability New England Journal of Medicine ·Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers Hit paper breakdown →	2012	987
2	Diagnostic Genome Profiling in Mental Retardation The American Journal of Human Genetics ·Bert B.A. de Vries, Rolph Pfundt, M.A.R. Leisink, David A. Koolen, Lisenka E.L.M. Vissers, Irene M. Janssen, Simon V. van Reijmersdal, Willy M. Nillesen, Erik Huys, Nicole de Leeuw, Dominique Smeets, Erik A. Sistermans, Ton Feuth, Conny M.A. van Ravenswaaij‐Arts, Ad Geurts van Kessel, Eric Schoenmakers, Han G. Brunner, Joris A. Veltman	2005	413
3	A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nature Genetics ·David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt, Nicole de Leeuw, Samantha J.L. Knight, Regina Regan, R. Frank Kooy, Edwin Reyniers, Corrado Romano, Marco Fichera, Albert Schinzel, Alessandra Baumer, Britt-Marie Anderlid, Jacqueline Schoumans, Nine V.A.M. Knoers, Ad Geurts van Kessel, Erik A. Sistermans, Joris A. Veltman, Han G. Brunner, Bert B.A. de Vries	2006	305
4	Whole exome sequencing of suspected mitochondrial patients in clinical practice Journal of Inherited Metabolic Disease ·Saskia B. Wortmann, David A. Koolen, Jan Smeıtınk, Lambert den van Heuvel, Richard J. Rodenburg	2015	151
5	Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability Obstetrical & Gynecological Survey ·Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers	2013	142
6	Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) Journal of Medical Genetics ·David A. Koolen, Willy M. Nillesen, Martina H. A. Versteeg, Gerard Merkx, Nine V.A.M. Knoers, Marleen Kets, Sascha Vermeer, Conny M.A. van Ravenswaaij, Carolien G. F. de Kovel, Han G. Brunner, Dominique Smeets, Bert B.A. de Vries, Erik A. Sistermans	2004	122
7	Genomic microarrays in mental retardation: A practical workflow for diagnostic applications Human Mutation ·David A. Koolen, Rolph Pfundt, Nicole de Leeuw, Jayne Y. Hehir‐Kwa, Willy M. Nillesen, Ineke Neefs, Ine Scheltinga, Erik A. Sistermans, H.J.M. Smeets, Han G. Brunner, Ad Geurts van Kessel, Joris A. Veltman, Bert B.A. de Vries	2008	103
8	Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H Epilepsia ·Sarah B. Mulkey, Bruria Ben‐Zeev, Joost Nicolai, John L. Carroll, Sabine Grønborg, Yong‐Hui Jiang, Nishtha Joshi, Megan L. Kelly, David A. Koolen, Mohamad A. Mikati, Kristen Park, Phillip L. Pearl, Ingrid E. Scheffer, Rebecca C. Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C. Cooper, Maria Roberta Cilio	2017	71
9	Aminoacyl-tRNA synthetase deficiencies in search of common themes Genetics in Medicine ·Sabine A. Fuchs, Imre F. Schene, Gautam Kok, J. Jansen, Peter G. J. Nikkels, Koen L.I. van Gassen, Suzanne W. J. Terheggen-Lagro, Saskia N. van der Crabben, Sanne E. Hoeks, Laetitia E.M. Niers, Nicole I. Wolf, Maaike C. de Vries, David A. Koolen, Roderick H.J. Houwen, Margot F. Mulder, Peter M. van Hasselt	2018	68
10	European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities European Journal of Medical Genetics ·Ilse Feenstra, Jiayi Fang, David A. Koolen, A. Siezen, C. R. Evans, R M Winter, Melissa Lees, Mariluce Riegel, Bert B.A. de Vries, Conny M.A. van Ravenswaaij, Albert Schinzel	2005	59
11	Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders Autophagy ·Katrin Linda, Elly Lewerissa, Anouk H. A. Verboven, Michele Gabriele, Monica Frega, Teun M. Klein Gunnewiek, Lynn Devilée, Edda Ulferts, Marina P. Hommersom, Astrid Oudakker, Chantal Schoenmaker, Hans van Bokhoven, Dirk Schubert, Giuseppe Testa, David A. Koolen, Bert B.A. de Vries, Nael Nadif Kasri	2021	46
12	Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency The American Journal of Human Genetics ·Laura Sánchez‐Caballero, Benedetta Ruzzenente, L Bianchi, Zahra Assouline, Giulia Barcia, Metodi D. Metodiev, Marlène Rio, Benoît Funalot, Mariël A.M. van den Brand, Sergio Guerrero‐Castillo, J. Molenaar, David A. Koolen, Ulrich Brandt, Richard J. Rodenburg, Leo Nijtmans, Agnès Rötig	2016	42
13	SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome Journal of Medical Genetics ·Anna Schossig, Agnès Bloch‐Zupan, Adrian Lussi, Nicole I. Wolf, Salmo Raskin, Monika Cohen, Fabienne Giuliano, Julie A. Jurgens, Birgit Krabichler, David A. Koolen, Nara Sobreira, Elisabeth Maurer, Michèle Muller‐Bolla, Johann Penzien, Johannes Zschocke, Ines Kapferer‐Seebacher	2016	40
14	Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation European Journal of Human Genetics ·David A. Koolen, William Reardon, Elisabeth Rosser, Didier Lacombe, Jane A. Hurst, Caroline Law, Ernie M.H.F. Bongers, Conny M.A. van Ravenswaaij‐Arts, M.A.R. Leisink, Ad Geurts van Kessel, Joris A. Veltman, Bert B.A. de Vries	2005	38
15	Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients Parkinsonism & Related Disorders ·W.M.A. Verhoeven, J.I.M. Egger, David A. Koolen, Helger G. Yntema, Simone Olgiati, Guido J. Breedveld, Vincenzo Bonifati, Bart P.C. van de Warrenburg	2013	38
16	Variability in dentofacial phenotypes in four families with WNT10A mutations European Journal of Human Genetics ·Christian P Vink, Charlotte W. Ockeloen, Sietske ten Kate, David A. Koolen, Johannes Kristian Ploos van Amstel, Anne Marie Kuijpers‐Jagtman, Celeste C. van Heumen, Tjitske Kleefstra, Carine Carels	2014	32
17	Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities American Journal of Medical Genetics Part A ·Karlijn Vermeulen, Anneke de Boer, Joost Janzing, David A. Koolen, Charlotte W. Ockeloen, Marjolein H. Willemsen, Floor M. Verhoef, Patricia A.M. van Deurzen, Linde van Dongen, Hans van Bokhoven, J.I.M. Egger, Wouter Staal, Tjitske Kleefstra	2017	27
18	Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia European Journal of Human Genetics ·Angela Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David J. Amor, Simon E. Fisher, David A. Koolen	2017	25
19	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 ·Tracy Dudding‐Byth, Anne Baxter, Elizabeth Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han G. Brunner, Bert de Vries, David A. Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell	2017	24
20	Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism European Journal of Human Genetics ·David A. Koolen, Juliette Dupont, Nicole de Leeuw, Lisenka E.L.M. Vissers, Simone PA van den Heuvel, Alyson Bradbury, James Steer, Arjan PM de Brouwer, Leo P. ten Kate, Willy M. Nillesen, Bert BA de Vries, Michael Parker	2012	23

About David A. Koolen

David A. Koolen is a scholar working on Genetics, Molecular Biology, Plant Science, Cognitive Neuroscience and Surgery, having authored 53 papers that have together received 3.1k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (36 papers), Genomics and Rare Diseases (26 papers), Genetics and Neurodevelopmental Disorders (21 papers), Congenital heart defects research (13 papers), Chromosomal and Genetic Variations (6 papers), Autism Spectrum Disorder Research (5 papers), Prenatal Screening and Diagnostics (3 papers) and Congenital Ear and Nasal Anomalies (2 papers). The work is most often cited by research in Genetics (2.2k citations), Clinical Biochemistry (194 citations), Molecular Biology (1.6k citations), Pediatrics, Perinatology and Child Health (330 citations) and Cognitive Neuroscience (203 citations). David A. Koolen has collaborated with scholars based in Netherlands, United States and France. Frequent co-authors include Bert B.A. de Vries, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Tjitske Kleefstra, Helger G. Yntema, Bregje W.M. van Bon, Marjolein H. Willemsen, Alexander Hoischen and Joep de Ligt. Their work appears in journals such as European Journal of Human Genetics, Genetics in Medicine, European Journal of Medical Genetics, The American Journal of Human Genetics and Journal of Medical 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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