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| Diagnostic genome profiling in mental retardation BBA De Vries, R Pfundt, M Leisink, DA Koolen, LELM Vissers, IM Janssen, ... The American Journal of Human Genetics 77 (4), 606-616, 2005 | 692 | 2005 |
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011 | 532 | 2011 |
| A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, ... Nature genetics 38 (9), 999-1001, 2006 | 524 | 2006 |
| A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases K Neveling, I Feenstra, C Gilissen, LH Hoefsloot, EJ Kamsteeg, ... Human mutation 34 (12), 1721-1726, 2013 | 405 | 2013 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 321 | 2017 |
| Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ... Journal of medical genetics 46 (8), 511-523, 2009 | 311 | 2009 |
| Whole exome sequencing of suspected mitochondrial patients in clinical practice SB Wortmann, DA Koolen, JA Smeitink, L van den Heuvel, RJ Rodenburg Journal of inherited metabolic disease 38, 437-443, 2015 | 257 | 2015 |
| Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ... Journal of medical genetics 45 (11), 710-720, 2008 | 253 | 2008 |
| Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome DA Koolen, JM Kramer, K Neveling, WM Nillesen, HL Moore-Barton, ... Nature genetics 44 (6), 639-641, 2012 | 251 | 2012 |
| Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) DA Koolen, WM Nillesen, MHA Versteeg, GFM Merkx, N Knoers, M Kets, ... Journal of medical genetics 41 (12), 892-899, 2004 | 219 | 2004 |
| Genomic microarrays in mental retardation: a practical workflow for diagnostic applications DA Koolen, R Pfundt, N de Leeuw, JY Hehir‐Kwa, WM Nillesen, I Neefs, ... Human mutation 30 (3), 283-292, 2009 | 200 | 2009 |
| The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21. 31 microdeletion versus a KANSL1 sequence variant DA Koolen, R Pfundt, K Linda, G Beunders, HE Veenstra-Knol, JH Conta, ... European Journal of Human Genetics 24 (5), 652-659, 2016 | 146 | 2016 |
| YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ... The American Journal of Human Genetics 100 (6), 907-925, 2017 | 140 | 2017 |
| De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum A Kuechler, MH Willemsen, B Albrecht, CA Bacino, DW Bartholomew, ... Human genetics 134, 97-109, 2015 | 128 | 2015 |
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ... Clinical genetics 84 (6), 539-545, 2013 | 119 | 2013 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 117 | 2018 |
| European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities I Feenstra, J Fang, DA Koolen, A Siezen, C Evans, RM Winter, MM Lees, ... European journal of medical genetics 49 (4), 279-291, 2006 | 108 | 2006 |
| Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior APM De Brouwer, R Abou Jamra, N Körtel, C Soyris, DL Polla, M Safra, ... The American Journal of Human Genetics 103 (6), 1045-1052, 2018 | 103 | 2018 |
| Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis BWM van Bon, DA Koolen, R Borgatti, A Magee, S Garcia-Minaur, ... Journal of medical genetics 45 (6), 346-354, 2008 | 102 | 2008 |
