| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ... The American Journal of Human Genetics 86 (5), 749-764, 2010 | 3245 | 2010 |
| 22q11. 2 deletion syndrome DM McDonald-McGinn, KE Sullivan, B Marino, N Philip, A Swillen, ... Nature reviews Disease primers 1 (1), 1-19, 2015 | 1197 | 2015 |
| Chromosome instability is common in human cleavage-stage embryos E Vanneste, T Voet, C Le Caignec, M Ampe, P Konings, C Melotte, ... Nature medicine 15 (5), 577, 2009 | 973 | 2009 |
| 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 | 857 | 2008 |
| Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics S Ardui, A Ameur, JR Vermeesch, MS Hestand Nucleic acids research 46 (5), 2159-2168, 2018 | 733 | 2018 |
| Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane C De Bari, F Dell'Accio, F Vandenabeele, JR Vermeesch, JM Raymackers, ... The Journal of cell biology 160 (6), 909-918, 2003 | 623 | 2003 |
| Mosaic copy number variation in human neurons MJ McConnell, MR Lindberg, KJ Brennand, JC Piper, T Voet, ... Science 342 (6158), 632-637, 2013 | 606 | 2013 |
| Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia C Graux, J Cools, C Melotte, H Quentmeier, A Ferrando, R Levine, ... Nature genetics 36 (10), 1084-1089, 2004 | 511 | 2004 |
| 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 | 469 | 2006 |
| Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ... Journal of medical genetics 44 (12), 750-762, 2007 | 351 | 2007 |
| 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 | 315 | 2009 |
| Recurrent reciprocal deletions and duplications of 16p13. 11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant FD Hannes, AJ Sharp, HC Mefford, T de Ravel, CA Ruivenkamp, ... Journal of medical genetics 46 (4), 223-232, 2009 | 310 | 2009 |
| Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders IM Campbell, BO Yuan, C Robberecht, R Pfundt, P Szafranski, ... The American Journal of Human Genetics 95 (2), 173-182, 2014 | 282 | 2014 |
| Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ... Nature genetics 44 (4), 445-449, 2012 | 280 | 2012 |
| Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients O Maertens, H Prenen, M Debiec-Rychter, A Wozniak, R Sciot, P Pauwels, ... Human molecular genetics 15 (6), 1015-1023, 2006 | 280 | 2006 |
| Single-cell chromosomal imbalances detection by array CGH C Le Caignec, C Spits, K Sermon, M De Rycke, B Thienpont, S Debrock, ... Nucleic acids research 34 (9), e68-e68, 2006 | 268 | 2006 |
| A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling D Wieczorek, N Boegershausen, F Beleggia, S Steiner-Haldenstaett, ... Human molecular genetics 22 (25), 5121-5135, 2013 | 252 | 2013 |
| Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients B Thienpont, L Mertens, T de Ravel, B Eyskens, D Boshoff, N Maas, ... European heart journal 28 (22), 2778-2784, 2007 | 249 | 2007 |
| Improved reference genome for the domestic horse increases assembly contiguity and composition TS Kalbfleisch, ES Rice, MS DePriest Jr, BP Walenz, MS Hestand, ... Communications biology 1 (1), 197, 2018 | 246 | 2018 |
| Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing F Amant, M Verheecke, I Wlodarska, L Dehaspe, P Brady, N Brison, ... JAMA oncology 1 (6), 814-819, 2015 | 245 | 2015 |
