| 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 |
| The need for transparency and good practices in the qPCR literature SA Bustin, V Benes, J Garson, J Hellemans, J Huggett, M Kubista, ... Nature methods 10 (11), 1063-1067, 2013 | 325 | 2013 |
| 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 |
| 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 | 209 | 2017 |
| 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 |
| Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems AT Vulto-van Silfhout, S Rajamanickam, PJ Jensik, S Vergult, ... The American Journal of Human Genetics 94 (5), 649-661, 2014 | 81 | 2014 |
| Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability S Vergult, A Dheedene, A Meurs, F Faes, B Isidor, S Janssens, A Gautier, ... European Journal of Human Genetics 23 (5), 628-632, 2015 | 80 | 2015 |
| Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2) AV Vanlander, B Menten, J Smet, L De Meirleir, T Sante, B De Paepe, ... Human mutation 36 (2), 222-231, 2015 | 69 | 2015 |
| Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity N De Rocker, S Vergult, D Koolen, E Jacobs, A Hoischen, S Zeesman, ... Genetics in Medicine 17 (6), 460-466, 2015 | 64 | 2015 |
| ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation T Sante, S Vergult, PJ Volders, WP Kloosterman, G Trooskens, ... PloS one 9 (12), e113800, 2014 | 61 | 2014 |
| Identification of long non-coding RNAs involved in neuronal development and intellectual disability E D’haene, EZ Jacobs, PJ Volders, T De Meyer, B Menten, S Vergult Scientific Reports 6 (1), 28396, 2016 | 59 | 2016 |
| Interpreting the impact of noncoding structural variation in neurodevelopmental disorders E D’haene, S Vergult Genetics in Medicine 23 (1), 34-46, 2021 | 57 | 2021 |
| Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination F Coppieters, G Ascari, K Dannhausen, K Nikopoulos, F Peelman, ... The American Journal of Human Genetics 99 (2), 470-480, 2016 | 56 | 2016 |
| Identification of a novel recurrent 1q42. 2‐1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas A Fieuw, C Kumps, A Schramm, F Pattyn, B Menten, F Antonacci, ... International journal of cancer 130 (11), 2599-2606, 2012 | 52 | 2012 |
| Array comparative genomic hybridization in male infertility K Stouffs, D Vandermaelen, A Massart, B Menten, S Vergult, H Tournaye, ... Human reproduction 27 (3), 921-929, 2012 | 51 | 2012 |
| Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations S Vergult, E Van Binsbergen, T Sante, S Nowak, O Vanakker, K Claes, ... European journal of human genetics 22 (5), 652-659, 2014 | 50 | 2014 |
| New insights into the phenotype of FARS2 deficiency E Vantroys, A Larson, M Friederich, K Knight, MA Swanson, CA Powell, ... Molecular Genetics and Metabolism 122 (4), 172-181, 2017 | 49 | 2017 |
| De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation MF Basilicata, AL Bruel, G Semplicio, CIK Valsecchi, T Aktaş, Y Duffourd, ... Nature genetics 50 (10), 1442-1451, 2018 | 44 | 2018 |
| De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome G Costain, B Callewaert, H Gabriel, TY Tan, S Walker, J Christodoulou, ... Genetics in Medicine 21 (4), 1021-1026, 2019 | 41 | 2019 |
| 17q24. 2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations S Vergult, A Dauber, BD Chiaie, E Van Oudenhove, M Simon, A Rihani, ... European Journal of Human Genetics 20 (5), 534-539, 2012 | 38 | 2012 |