| The 2017 international classification of the Ehlers–Danlos syndromes F Malfait, C Francomano, P Byers, J Belmont, B Berglund, J Black, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 1868 | 2017 |
| A framework for the classification of joint hypermobility and related conditions M Castori, B Tinkle, H Levy, R Grahame, F Malfait, A Hakim American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 591 | 2017 |
| The Ehlers–Danlos syndrome, a disorder with many faces A De Paepe, F Malfait Clinical genetics 82 (1), 1-11, 2012 | 480 | 2012 |
| Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type F Malfait, RJ Wenstrup, A De Paepe Genetics in medicine 12 (10), 597-605, 2010 | 360 | 2010 |
| The genetic basis of the joint hypermobility syndromes F Malfait, AJ Hakim, A De Paepe, R Grahame Rheumatology 45 (5), 502-507, 2006 | 337 | 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 | 325 | 2008 |
| Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers–Danlos syndrome hypermobility type L Rombaut, F Malfait, A Cools, A De Paepe, P Calders Disability and rehabilitation 32 (16), 1339-1345, 2010 | 292 | 2010 |
| Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders AD Paepe, F Malfait British journal of haematology 127 (5), 491-500, 2004 | 274 | 2004 |
| The ehlers–danlos syndromes F Malfait, M Castori, CA Francomano, C Giunta, T Kosho, PH Byers Nature Reviews Disease Primers 6 (1), 64, 2020 | 262 | 2020 |
| The Ehlers–Danlos syndromes, rare types AF Brady, S Demirdas, S Fournel‐Gigleux, N Ghali, C Giunta, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 252 | 2017 |
| Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome BP Kelley, F Malfait, L Bonafe, D Baldridge, E Homan, S Symoens, ... Journal of Bone and Mineral Research 26 (3), 666-672, 2011 | 206 | 2011 |
| Ehlers–Danlos syndrome, classical type JM Bowen, GJ Sobey, NP Burrows, M Colombi, ME Lavallee, F Malfait, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 195 | 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 | 187 | 2012 |
| Three arginine to cysteine substitutions in the pro‐alpha (I)‐collagen chain cause Ehlers‐Danlos syndrome with a propensity to arterial rupture in early adulthood F Malfait, S Symoens, J De Backer, T Hermanns‐Lê, N Sakalihasan, ... Human mutation 28 (4), 387-395, 2007 | 186 | 2007 |
| Novel types of mutation responsible for the dermatosparactic type of Ehlers–Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene A Colige, L Nuytinck, I Hausser, AJ Van Essen, M Thiry, C Herens, ... Journal of Investigative Dermatology 123 (4), 656-663, 2004 | 172 | 2004 |
| EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta FS Van Dijk, PH Byers, R Dalgleish, F Malfait, A Maugeri, M Rohrbach, ... European Journal of Human Genetics 20 (1), 11-19, 2012 | 168 | 2012 |
| The molecular basis of classic Ehlers‐Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients F Malfait, P Coucke, S Symoens, B Loeys, L Nuytinck, A De Paepe Human mutation 25 (1), 28-37, 2005 | 162 | 2005 |
| Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers–Danlos syndrome I De Wandele, L Rombaut, L Leybaert, P Van de Borne, T De Backer, ... Seminars in arthritis and rheumatism 44 (1), 93-100, 2014 | 161 | 2014 |
| Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome L Rombaut, F Malfait, I De Wandele, A Cools, Y Thijs, A De Paepe, ... Archives of physical medicine and rehabilitation 92 (7), 1106-1112, 2011 | 160 | 2011 |
| Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder F Malfait, A Kariminejad, T Van Damme, C Gauche, D Syx, F Merhi-Soussi, ... The American Journal of Human Genetics 92 (6), 935-945, 2013 | 155 | 2013 |
