| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 858 | 2008 |
| LNCipedia: a database for annotated human lncRNA transcript sequences and structures PJ Volders, K Helsens, X Wang, B Menten, L Martens, K Gevaert, ... Nucleic acids research 41 (D1), D246-D251, 2013 | 591 | 2013 |
| A link between host plant adaptation and pesticide resistance in the polyphagous spider mite Tetranychus urticae W Dermauw, N Wybouw, S Rombauts, B Menten, J Vontas, M Grbić, ... Proceedings of the National Academy of Sciences 110 (2), E113-E122, 2013 | 483 | 2013 |
| Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of … B Menten, N Maas, B Thienpont, K Buysse, J Vandesompele, C Melotte, ... Journal of medical genetics 43 (8), 625-633, 2006 | 462 | 2006 |
| 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 | 337 | 2017 |
| Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A Van Haeringen, ... European journal of medical genetics 52 (2-3), 77-87, 2009 | 327 | 2009 |
| 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 | 319 | 2009 |
| Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms WP Kloosterman, M Tavakoli-Yaraki, MJ van Roosmalen, ... Cell reports 1 (6), 648-655, 2012 | 234 | 2012 |
| Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome N Van der Aa, L Rooms, G Vandeweyer, J van den Ende, E Reyniers, ... European journal of medical genetics 52 (2-3), 94-100, 2009 | 228 | 2009 |
| Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 210 | 2017 |
| Targeted expression of mutated ALK induces neuroblastoma in transgenic mice LC Heukamp, T Thor, A Schramm, K De Preter, C Kumps, B De Wilde, ... Science translational medicine 4 (141), 141ra91-141ra91, 2012 | 210 | 2012 |
| The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia J Van der Meulen, V Sanghvi, K Mavrakis, K Durinck, F Fang, ... Blood, The Journal of the American Society of Hematology 125 (1), 13-21, 2015 | 209 | 2015 |
| 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 | 193 | 2005 |
| Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ... The American Journal of Human Genetics 92 (2), 210-220, 2013 | 192 | 2013 |
| An integrative genomics screen uncovers ncRNA T-UCR functions in neuroblastoma tumours P Mestdagh, E Fredlund, F Pattyn, A Rihani, T Van Maerken, J Vermeulen, ... Oncogene 29 (24), 3583-3592, 2010 | 184 | 2010 |
| Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma M Popovic, L Dhaenens, A Boel, B Menten, B Heindryckx Human Reproduction Update 26 (3), 313-334, 2020 | 165 | 2020 |
| Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ... The American Journal of Human Genetics 95 (6), 708-720, 2014 | 155 | 2014 |
| Alternative routes to induce naive pluripotency in human embryonic stem cells G Duggal, S Warrier, S Ghimire, D Broekaert, M Van der Jeught, ... Stem cells 33 (9), 2686-2698, 2015 | 147 | 2015 |
| Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience K Buysse, B Delle Chiaie, R Van Coster, B Loeys, A De Paepe, G Mortier, ... European journal of medical genetics 52 (6), 398-403, 2009 | 142 | 2009 |
| Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing? M Popovic, A Dheedene, C Christodoulou, J Taelman, L Dhaenens, ... Human reproduction 33 (7), 1342-1354, 2018 | 136 | 2018 |
Jo Vandesompeleprofessor in functional cancer genomics and applied bioinformaticsEmail confirmado em ugent.be
