| The revised Ghent nosology for the Marfan syndrome BL Loeys, HC Dietz, AC Braverman, BL Callewaert, J De Backer, ... Journal of medical genetics 47 (7), 476-485, 2010 | 2390 | 2010 |
| Aneurysm syndromes caused by mutations in the TGF-β receptor BL Loeys, U Schwarze, T Holm, BL Callewaert, GH Thomas, H Pannu, ... New England Journal of Medicine 355 (8), 788-798, 2006 | 1850 | 2006 |
| Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ... The American Journal of Human Genetics 81 (3), 454-466, 2007 | 601 | 2007 |
| Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome PJ Coucke, A Willaert, MW Wessels, B Callewaert, N Zoppi, J De Backer, ... Nature genetics 38 (4), 452-457, 2006 | 432 | 2006 |
| Ehlers-Danlos syndromes and Marfan syndrome B Callewaert, F Malfait, B Loeys, A De Paepe Best practice & research Clinical rheumatology 22 (1), 165-189, 2008 | 312 | 2008 |
| 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 | 306 | 2017 |
| Clinical validity of genes for heritable thoracic aortic aneurysm and dissection M Renard, C Francis, R Ghosh, AF Scott, PD Witmer, LC Adès, ... Journal of the American College of Cardiology 72 (6), 605-615, 2018 | 229 | 2018 |
| Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families BL Callewaert, A Willaert, WS Kerstjens‐Frederikse, J De Backer, ... Human mutation 29 (1), 150-158, 2008 | 219 | 2008 |
| Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations L Faivre, A Masurel-Paulet, G Collod-Beroud, BL Callewaert, AH Child, ... Pediatrics 123 (1), 391-398, 2009 | 208 | 2009 |
| Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD M Renard, B Callewaert, M Baetens, L Campens, K MacDermot, JP Fryns, ... International journal of cardiology 165 (2), 314-321, 2013 | 198 | 2013 |
| 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 | 193 | 2017 |
| Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria S Symoens, D Syx, F Malfait, B Callewaert, J De Backer, O Vanakker, ... Human mutation 33 (10), 1485-1493, 2012 | 178 | 2012 |
| Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency M Renard, T Holm, R Veith, BL Callewaert, LC Adès, O Baspinar, ... European Journal of Human Genetics 18 (8), 895-901, 2010 | 166 | 2010 |
| The new Ghent criteria for Marfan syndrome: what do they change? L Faivre, G Collod‐Beroud, L Adès, E Arbustini, A Child, BL Callewaert, ... Clinical genetics 81 (5), 433-442, 2012 | 157 | 2012 |
| New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five ELN mutations B Callewaert, M Renard, V Hucthagowder, B Albrecht, I Hausser, E Blair, ... Human mutation 32 (4), 445-455, 2011 | 157 | 2011 |
| Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands L Faivre, G Collod-Beroud, A Child, B Callewaert, BL Loeys, C Binquet, ... Journal of medical genetics 45 (6), 384-390, 2008 | 156 | 2008 |
| Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans S Symoens, F Malfait, S D’hondt, B Callewaert, A Dheedene, W Steyaert, ... Orphanet journal of rare diseases 8, 1-6, 2013 | 138 | 2013 |
| In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome V Carmignac, J Thevenon, L Adès, B Callewaert, S Julia, ... The American Journal of Human Genetics 91 (5), 950-957, 2012 | 128 | 2012 |
| Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature BL Callewaert, BL Loeys, A Ficcadenti, S Vermeer, M Landgren, ... Human mutation 30 (3), 334-341, 2009 | 115 | 2009 |
| ACTB loss-of-function mutations result in a pleiotropic developmental disorder S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ... The American Journal of Human Genetics 101 (6), 1021-1033, 2017 | 107 | 2017 |
