| 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 | 844 | 2008 |
| Practical guidelines for managing patients with 22q11. 2 deletion syndrome AS Bassett, DM McDonald-McGinn, K Devriendt, MC Digilio, ... The Journal of pediatrics 159 (2), 332-339. e1, 2011 | 682 | 2011 |
| GATA3 haplo-insufficiency causes human HDR syndrome H Van Esch, P Groenen, MA Nesbit, S Schuffenhauer, P Lichtner, ... Nature 406 (6794), 419-422, 2000 | 625 | 2000 |
| De novo mutations of SETBP1 cause Schinzel-Giedion syndrome A Hoischen, BWM van Bon, C Gilissen, P Arts, B van Lier, M Steehouwer, ... Nature genetics 42 (6), 483-485, 2010 | 592 | 2010 |
| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 574 | 2015 |
| Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase A Irrthum, MJ Karkkainen, K Devriendt, K Alitalo, M Vikkula The American Journal of Human Genetics 67 (2), 295-301, 2000 | 512 | 2000 |
| Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia K Devriendt, AS Kim, G Mathijs, SGM Frints, M Schwartz, JJ Van den Oord, ... Nature genetics 27 (3), 313-317, 2001 | 504 | 2001 |
| Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia A Irrthum, K Devriendt, D Chitayat, G Matthijs, C Glade, PM Steijlen, ... The American Journal of Human Genetics 72 (6), 1470-1478, 2003 | 480 | 2003 |
| 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 | 467 | 2006 |
| Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ... Science 319 (5864), 816-819, 2008 | 459 | 2008 |
| Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. A Swillen, K Devriendt, E Legius, B Eyskens, M Dumoulin, M Gewillig, ... Journal of Medical Genetics 34 (6), 453-458, 1997 | 424 | 1997 |
| Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ... Nature genetics 48 (9), 1060-1065, 2016 | 410 | 2016 |
| The annual incidence of DiGeorge/velocardiofacial syndrome. K Devriendt, JP Fryns, G Mortier, MN Van Thienen, K Keymolen Journal of medical genetics 35 (9), 789, 1998 | 408 | 1998 |
| Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) C Zweier, MM Peippo, J Hoyer, S Sousa, A Bottani, J Clayton-Smith, ... The American Journal of Human Genetics 80 (5), 994-1001, 2007 | 357 | 2007 |
| Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease R Soemedi, IJ Wilson, J Bentham, R Darlay, A Töpf, D Zelenika, ... The American Journal of Human Genetics 91 (3), 489-501, 2012 | 343 | 2012 |
| VEGF: A modifier of the del22q11 (DiGeorge) syndrome? I Stalmans, D Lambrechts, F De Smet, S Jansen, J Wang, S Maity, ... Nature medicine 9 (2), 173-182, 2003 | 342 | 2003 |
| Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes S Kantarci, L Al-Gazali, RS Hill, D Donnai, GCM Black, E Bieth, ... Nature genetics 39 (8), 957-959, 2007 | 330 | 2007 |
| Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ... Human molecular genetics 10 (15), 1591-1600, 2001 | 320 | 2001 |
| Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections AM Bertoli-Avella, E Gillis, H Morisaki, JMA Verhagen, BM De Graaf, ... Journal of the American College of Cardiology 65 (13), 1324-1336, 2015 | 312 | 2015 |
| 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 | 311 | 2016 |
