David A. Koolen

10.4k 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 41
- Genomic variations and chromosomal abnormalities 30
- Genomics and Rare Diseases 24
- Genetics and Neurodevelopmental Disorders 16
Molecular Biology 20
- Congenital heart defects research 11

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)Marjolein H. Willemsen (4 shared papers)Bregje W.M. van Bon (7 shared papers)
Journals: European Journal of Human Genetics (8 papers)European Journal of Medical Genetics (3 papers)The American Journal of Human Genetics (3 papers)Genetics in Medicine (3 papers)Epilepsia (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 · 997 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	997
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	307
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	153
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	72
9	Aminoacyl-tRNA synthetase deficiencies in search of common themes Genetics in Medicine ·Sabine A. Fuchs, Imre F. Schene, Gautam Kok, (unknown), 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	69
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	48
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	43
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	39
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	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	26
19	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
20	Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature European Journal of Medical Genetics ·Ilse Feenstra, David A. Koolen, J. Van der Pas, Ben C.J. Hamel, Hanneke Mieloo, Dominique Smeets, Conny M.A. van Ravenswaaij	2006	23

About David A. Koolen

David A. Koolen is a scholar working on Genetics, Molecular Biology, Plant Science, Rheumatology 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 (30 papers), Genomics and Rare Diseases (24 papers), Genetics and Neurodevelopmental Disorders (16 papers), Congenital heart defects research (11 papers), Chromosomal and Genetic Variations (6 papers), Autism Spectrum Disorder Research (3 papers), Bone and Dental Protein Studies (2 papers) and Pediatric Hepatobiliary Diseases and Treatments (2 papers). The work is most often cited by research in Genetics (2.0k citations), Clinical Biochemistry (161 citations), Molecular Biology (1.4k citations), Pediatrics, Perinatology and Child Health (247 citations) and Cellular and Molecular Neuroscience (175 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, Marjolein H. Willemsen, Bregje W.M. van Bon, Joep de Ligt and Alexander Hoischen. Their work appears in journals such as European Journal of Human Genetics, European Journal of Medical Genetics, The American Journal of Human Genetics, Genetics in Medicine and Epilepsia.

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