| qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data J Hellemans, G Mortier, A De Paepe, F Speleman, J Vandesompele Genome biology 8, 1-14, 2007 | 4414 | 2007 |
| 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 | 835 | 2008 |
| Nosology and classification of genetic skeletal disorders: 2010 revision ML Warman, V Cormier‐Daire, C Hall, D Krakow, R Lachman, M LeMerrer, ... American journal of medical genetics Part A 155 (5), 943-968, 2011 | 811 | 2011 |
| Nosology and classification of genetic skeletal disorders: 2015 revision L Bonafe, V Cormier‐Daire, C Hall, R Lachman, G Mortier, S Mundlos, ... American journal of medical genetics Part A 167 (12), 2869-2892, 2015 | 656 | 2015 |
| HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle MA Deardorff, M Bando, R Nakato, E Watrin, T Itoh, M Minamino, K Saitoh, ... Nature 489 (7415), 313-317, 2012 | 641 | 2012 |
| Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects LM Messiaen, T Callens, G Mortier, D Beysen, I Vandenbroucke, ... Human mutation 15 (6), 541-555, 2000 | 641 | 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 | 588 | 2010 |
| Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene MD Briggs, SMG Hoffman, LM King, AS Olsen, H Mohrenweiser, JG Leroy, ... Nature genetics 10 (3), 330-336, 1995 | 579 | 1995 |
| Nosology and classification of genetic skeletal disorders: 2019 revision GR Mortier, DH Cohn, V Cormier‐Daire, C Hall, D Krakow, S Mundlos, ... American journal of medical genetics Part A 179 (12), 2393-2419, 2019 | 558 | 2019 |
| Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis J Hellemans, O Preobrazhenska, A Willaert, P Debeer, PCM Verdonk, ... Nature genetics 36 (11), 1213-1218, 2004 | 518 | 2004 |
| Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm ME Lindsay, D Schepers, NA Bolar, JJ Doyle, E Gallo, J Fert-Bober, ... Nature genetics 44 (8), 922-927, 2012 | 489 | 2012 |
| 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 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 | 402 | 1998 |
| Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ... The American Journal of Human Genetics 75 (1), 27-34, 2004 | 401 | 2004 |
| Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia … F Pasutto, H Sticht, G Hammersen, G Gillessen-Kaesbach, DR FitzPatrick, ... The American Journal of Human Genetics 80 (3), 550-560, 2007 | 392 | 2007 |
| Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa B Loeys, L Van Maldergem, G Mortier, P Coucke, S Gerniers, ... Human molecular genetics 11 (18), 2113-2118, 2002 | 386 | 2002 |
| 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 |
| 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 | 308 | 2009 |
| Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm AJ Doyle, JJ Doyle, SL Bessling, S Maragh, ME Lindsay, D Schepers, ... Nature genetics 44 (11), 1249-1254, 2012 | 301 | 2012 |
| Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome. R Parvari, E Hershkovitz, N Grossman, R Gorodischer, B Loeys, A Zecic, ... Nature genetics 32 (3), 2002 | 247 | 2002 |
