Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males H Van Esch, M Bauters, J Ignatius, M Jansen, M Raynaud, K Hollanders, ... The American Journal of Human Genetics 77 (3), 442-453, 2005 | 688 | 2005 |
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia I Lahortiga, K De Keersmaecker, P Van Vlierberghe, C Graux, ... Nature genetics 39 (5), 593-595, 2007 | 310 | 2007 |
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ... Molecular psychiatry 21 (1), 133-148, 2016 | 305 | 2016 |
A screening study of surface stabilization during the production of drug nanocrystals B Van Eerdenbrugh, J Vermant, JA Martens, L Froyen, J Van Humbeeck, ... Journal of pharmaceutical sciences 98 (6), 2091-2103, 2009 | 273 | 2009 |
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation G Froyen, M Corbett, J Vandewalle, I Jarvela, O Lawrence, C Meldrum, ... The American Journal of Human Genetics 82 (2), 432-443, 2008 | 243 | 2008 |
Detection of genomic copy number changes in patients with idiopathic mental retardation by high‐resolution X‐array‐CGH: important role for increased gene dosage of XLMR genes G Froyen, H Van Esch, M Bauters, K Hollanders, SGM Frints, ... Human mutation 28 (10), 1034-1042, 2007 | 200 | 2007 |
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins S Carmi, KY Hui, E Kochav, X Liu, J Xue, F Grady, S Guha, K Upadhyay, ... Nature communications 5 (1), 4835, 2014 | 197 | 2014 |
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis JR Vermeesch, C Melotte, G Froyen, S Van Vooren, B Dutta, N Maas, ... Journal of Histochemistry & Cytochemistry 53 (3), 413-422, 2005 | 195 | 2005 |
Human monocyte chemotactic protein-3 (MCP-3): molecular cloning of the cDNA and comparison with other chemokines G Opdenakker, G Froyen, P Fiten, P Proost, J Vandamme Biochemical and biophysical research communications 191 (2), 535-542, 1993 | 164 | 1993 |
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior SGM Frints, P Marynen, D Hartmann, JP Fryns, J Steyaert, M Schachner, ... Human Molecular Genetics 12 (13), 1463-1474, 2003 | 153 | 2003 |
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair M Bauters, H Van Esch, MJ Friez, O Boespflug-Tanguy, M Zenker, ... Genome research 18 (6), 847-858, 2008 | 149 | 2008 |
Granulocyte chemotactic protein-2 and related CXC chemokines: from gene regulation to receptor usage J Van Damme, A Wuyts, G Froyen, E Van Coillie, S Struyf, A Billiau, ... Journal of leukocyte biology 62 (5), 563-569, 1997 | 141 | 1997 |
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans Y Wu, AC Arai, G Rumbaugh, AK Srivastava, G Turner, T Hayashi, ... Proceedings of the National Academy of Sciences 104 (46), 18163-18168, 2007 | 133 | 2007 |
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis H Van Esch, K Hollanders, L Badisco, C Melotte, P Van Hummelen, ... Human molecular genetics 14 (13), 1795-1803, 2005 | 123 | 2005 |
Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium APM de Brouwer, HG Yntema, T Kleefstra, D Lugtenberg, AR Oudakker, ... Human mutation 28 (2), 207-208, 2007 | 117 | 2007 |
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability L Huang, LA Jolly, S Willis-Owen, A Gardner, R Kumar, E Douglas, ... The American Journal of Human Genetics 91 (4), 694-702, 2012 | 114 | 2012 |
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing H Hu, K Wrogemann, V Kalscheuer, A Tzschach, H Richard, SA Haas, ... The HUGO journal 3, 41-49, 2009 | 112 | 2009 |
Identification of intellectual disability genes in female patients with a skewed X‐inactivation pattern N Fieremans, H Van Esch, M Holvoet, G Van Goethem, K Devriendt, ... Human mutation 37 (8), 804-811, 2016 | 99 | 2016 |
Copy-number gains of HUWE1 due to replication-and recombination-based rearrangements G Froyen, S Belet, F Martinez, CB Santos-Rebouças, M Declercq, ... The American Journal of Human Genetics 91 (2), 252-264, 2012 | 93 | 2012 |
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination J Vandewalle, H Van Esch, K Govaerts, J Verbeeck, C Zweier, I Madrigal, ... The American Journal of Human Genetics 85 (6), 809-822, 2009 | 92 | 2009 |